Canonical Allele Identifier: CA856574043

Gene:

Linked Data

• dbSNP Id: rs1314554186
• gnomAD v3: 8-88981224-C-G
• gnomAD v4: 8-88981224-C-G
• MyVariant Identifiers: chr8:g.89993453C>G (hg19) ; chr8:g.88981224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88981224C>G , CM000670.2:g.88981224C>G	GRCh38
NC_000008.10:g.89993453C>G , CM000670.1:g.89993453C>G	GRCh37
NC_000008.9:g.90062569C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956667.1:n.179-99163G>C