Canonical Allele Identifier: CA107754039

Gene:

Linked Data

• dbSNP Id: rs139524637
• gnomAD v2: 4-145522675-C-A
• gnomAD v3: 4-144601523-C-A
• gnomAD v4: 4-144601523-C-A
• MyVariant Identifiers: chr4:g.145522675C>A (hg19) ; chr4:g.144601523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601523C>A , CM000666.2:g.144601523C>A	GRCh38
NC_000004.11:g.145522675C>A , CM000666.1:g.145522675C>A	GRCh37
NC_000004.10:g.145742125C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185545G>T	ENSP00000497507.1:n.328-185545G>T