Canonical Allele Identifier: CA786695581

Gene:

Linked Data

• dbSNP Id: rs1287198699
• gnomAD v3: 4-12578364-A-G
• gnomAD v4: 4-12578364-A-G
• MyVariant Identifiers: chr4:g.12579988A>G (hg19) ; chr4:g.12578364A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.12578364A>G , CM000666.2:g.12578364A>G	GRCh38
NC_000004.11:g.12579988A>G , CM000666.1:g.12579988A>G	GRCh37
NC_000004.10:g.12189086A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_925406.1:n.106+30978T>C
XR_001741374.1:n.254+44291T>C
XR_925406.3:n.140+30978T>C