Canonical Allele Identifier: CA181599874

Gene:

Linked Data

• dbSNP Id: rs183279467
• gnomAD v3: 8-88981197-T-C
• gnomAD v4: 8-88981197-T-C
• MyVariant Identifiers: chr8:g.89993426T>C (hg19) ; chr8:g.88981197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88981197T>C , CM000670.2:g.88981197T>C	GRCh38
NC_000008.10:g.89993426T>C , CM000670.1:g.89993426T>C	GRCh37
NC_000008.9:g.90062542T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956667.1:n.179-99136A>G