HGVS Normalizer - Powered by ferro-hgvs

HGVS Variant Normalization

HGVS Variant:

Examples:

HGVS Variants (one per line):

Tools:

ferro

mutalyzer

biocommons

hgvs-rs

Error Mode:

Silent Lenient Strict

Convert HGVS variants between coordinate systems (c. ↔ g. ↔ p. ↔ n.)

HGVS Variant:

Examples:

Target Coordinate System:

g. (genomic) c. (coding) p. (protein) n. (non-coding)

Include all possible conversions

Predict protein consequences using Sequence Ontology terms

HGVS Variant:

Examples:

Include NMD (Nonsense-Mediated Decay) prediction

Convert genomic coordinates between GRCh37 (hg19) and GRCh38 (hg38)

Genomic Position:

Examples:

From:

→

To:

Bidirectional conversion between VCF format and HGVS notation

HGVS Variant:

Examples:

Genome Build:

CHROM:

POS:

REF:

ALT:

Examples:

Genome Build:

Transcript (optional, for c. notation):