Canonical Allele Identifier: CA93117906

Gene:

Linked Data

• dbSNP Id: rs924682004
• gnomAD v2: 4-12579785-C-T
• gnomAD v3: 4-12578161-C-T
• gnomAD v4: 4-12578161-C-T
• MyVariant Identifiers: chr4:g.12579785C>T (hg19) ; chr4:g.12578161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578161C>T , CM000666.2:g.12578161C>T	GRCh38
NC_000004.11:g.12579785C>T , CM000666.1:g.12579785C>T	GRCh37
NC_000004.10:g.12188883C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_925406.1:n.106+31181G>A
XR_001741374.1:n.254+44494G>A
XR_925406.3:n.140+31181G>A