Canonical Allele Identifier: CA850516654

Gene:

Linked Data

• dbSNP Id: rs1238894732
• gnomAD v3: 8-2923355-T-A
• gnomAD v4: 8-2923355-T-A
• MyVariant Identifiers: chr8:g.2780877T>A (hg19) ; chr8:g.2923355T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.2923355T>A , CM000670.2:g.2923355T>A	GRCh38
NC_000008.10:g.2780877T>A , CM000670.1:g.2780877T>A	GRCh37
NC_000008.9:g.2768284T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941365.1:n.127+207A>T
XR_941367.1:n.212-2410T>A
XR_002956657.1:n.1002-2410T>A
XR_002956658.1:n.3030-2410T>A
NR_168441.1:n.1167-77650T>A
NR_168442.1:n.1698-2410T>A
NR_168443.1:n.1172-85213T>A
NR_168444.1:n.1167-66183T>A
NR_168445.1:n.1250-66183T>A