Canonical Allele Identifier: CA850516660

Gene:

Linked Data

• dbSNP Id: rs1280052069
• gnomAD v3: 8-2923366-T-C
• gnomAD v4: 8-2923366-T-C
• MyVariant Identifiers: chr8:g.2780888T>C (hg19) ; chr8:g.2923366T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.2923366T>C , CM000670.2:g.2923366T>C	GRCh38
NC_000008.10:g.2780888T>C , CM000670.1:g.2780888T>C	GRCh37
NC_000008.9:g.2768295T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941365.1:n.127+196A>G
XR_941367.1:n.212-2399T>C
XR_002956657.1:n.1002-2399T>C
XR_002956658.1:n.3030-2399T>C
NR_168441.1:n.1167-77639T>C
NR_168442.1:n.1698-2399T>C
NR_168443.1:n.1172-85202T>C
NR_168444.1:n.1167-66172T>C
NR_168445.1:n.1250-66172T>C