Canonical Allele Identifier: CA185688680

Gene:

Linked Data

• dbSNP Id: rs780834682
• gnomAD v2: 8-128011847-C-G
• gnomAD v3: 8-126999602-C-G
• gnomAD v4: 8-126999602-C-G
• MyVariant Identifiers: chr8:g.128011847C>G (hg19) ; chr8:g.126999602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999602C>G , CM000670.2:g.126999602C>G	GRCh38
NC_000008.10:g.128011847C>G , CM000670.1:g.128011847C>G	GRCh37
NC_000008.9:g.128081029C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001746076.2:n.1301-6953C>G