Canonical Allele Identifier: CA847111794

Gene:

Linked Data

• dbSNP Id: rs1194346900
• gnomAD v3: 8-126999797-C-A
• gnomAD v4: 8-126999797-C-A
• MyVariant Identifiers: chr8:g.128012042C>A (hg19) ; chr8:g.126999797C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999797C>A , CM000670.2:g.126999797C>A	GRCh38
NC_000008.10:g.128012042C>A , CM000670.1:g.128012042C>A	GRCh37
NC_000008.9:g.128081224C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-6758C>A