Canonical Allele Identifier: CA12913274

Gene:

Linked Data

• dbSNP Id: rs4240624
• gnomAD v2: 8-9184231-G-A
• gnomAD v3: 8-9326721-G-A
• gnomAD v4: 8-9326721-G-A
• MyVariant Identifiers: chr8:g.9184231G>A (hg19) ; chr8:g.9326721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.9326721G>A , CM000670.2:g.9326721G>A	GRCh38
NC_000008.10:g.9184231G>A , CM000670.1:g.9184231G>A	GRCh37
NC_000008.9:g.9221641G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_040039.1:n.765+418G>A