Canonical Allele Identifier: CA181599876

Gene:

Linked Data

• dbSNP Id: rs1028822904
• gnomAD v2: 8-89993445-G-T
• gnomAD v3: 8-88981216-G-T
• gnomAD v4: 8-88981216-G-T
• MyVariant Identifiers: chr8:g.89993445G>T (hg19) ; chr8:g.88981216G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88981216G>T , CM000670.2:g.88981216G>T	GRCh38
NC_000008.10:g.89993445G>T , CM000670.1:g.89993445G>T	GRCh37
NC_000008.9:g.90062561G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956667.1:n.179-99155C>A