Canonical Allele Identifier: CA786695550

Gene:

Linked Data

• dbSNP Id: rs1281378982
• gnomAD v3: 4-12578223-G-A
• gnomAD v4: 4-12578223-G-A
• MyVariant Identifiers: chr4:g.12579847G>A (hg19) ; chr4:g.12578223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578223G>A , CM000666.2:g.12578223G>A	GRCh38
NC_000004.11:g.12579847G>A , CM000666.1:g.12579847G>A	GRCh37
NC_000004.10:g.12188945G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_925406.1:n.106+31119C>T
XR_001741374.1:n.254+44432C>T
XR_925406.3:n.140+31119C>T