Canonical Allele Identifier: CA185688713

Gene:

Linked Data

• dbSNP Id: rs996911487
• gnomAD v2: 8-128012053-C-A
• gnomAD v3: 8-126999808-C-A
• gnomAD v4: 8-126999808-C-A
• MyVariant Identifiers: chr8:g.128012053C>A (hg19) ; chr8:g.126999808C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999808C>A , CM000670.2:g.126999808C>A	GRCh38
NC_000008.10:g.128012053C>A , CM000670.1:g.128012053C>A	GRCh37
NC_000008.9:g.128081235C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-6747C>A