Canonical Allele Identifier: CA579300560

Gene:

Linked Data

• dbSNP Id: rs963540341
• gnomAD v2: 8-2780907-G-A
• gnomAD v3: 8-2923385-G-A
• gnomAD v4: 8-2923385-G-A
• MyVariant Identifiers: chr8:g.2780907G>A (hg19) ; chr8:g.2923385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.2923385G>A , CM000670.2:g.2923385G>A	GRCh38
NC_000008.10:g.2780907G>A , CM000670.1:g.2780907G>A	GRCh37
NC_000008.9:g.2768314G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941365.1:n.127+177C>T
XR_941367.1:n.212-2380G>A
XR_002956657.1:n.1002-2380G>A
XR_002956658.1:n.3030-2380G>A
NR_168441.1:n.1167-77620G>A
NR_168442.1:n.1698-2380G>A
NR_168443.1:n.1172-85183G>A
NR_168444.1:n.1167-66153G>A
NR_168445.1:n.1250-66153G>A