Canonical Allele Identifier: CA93117907

Gene:

Linked Data

• dbSNP Id: rs375776431
• gnomAD v2: 4-12579786-A-G
• gnomAD v3: 4-12578162-A-G
• gnomAD v4: 4-12578162-A-G
• MyVariant Identifiers: chr4:g.12579786A>G (hg19) ; chr4:g.12578162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578162A>G , CM000666.2:g.12578162A>G	GRCh38
NC_000004.11:g.12579786A>G , CM000666.1:g.12579786A>G	GRCh37
NC_000004.10:g.12188884A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_925406.1:n.106+31180T>C
XR_001741374.1:n.254+44493T>C
XR_925406.3:n.140+31180T>C