Canonical Allele Identifier: CA12936277

Gene:

Linked Data

• dbSNP Id: rs9987289
• gnomAD v2: 8-9183358-A-G
• gnomAD v3: 8-9325848-A-G
• gnomAD v4: 8-9325848-A-G
• MyVariant Identifiers: chr8:g.9183358A>G (hg19) ; chr8:g.9325848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.9325848A>G , CM000670.2:g.9325848A>G	GRCh38
NC_000008.10:g.9183358A>G , CM000670.1:g.9183358A>G	GRCh37
NC_000008.9:g.9220768A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040039.1:n.364-54A>G