Canonical Allele Identifier: CA170613632

Gene:

Linked Data

• dbSNP Id: rs916092827
• MyVariant Identifiers: chr8:g.2780900A>C (hg19) ; chr8:g.2923378A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.2923378A>C , CM000670.2:g.2923378A>C	GRCh38
NC_000008.10:g.2780900A>C , CM000670.1:g.2780900A>C	GRCh37
NC_000008.9:g.2768307A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941365.1:n.127+184T>G
XR_941367.1:n.212-2387A>C
XR_002956657.1:n.1002-2387A>C
XR_002956658.1:n.3030-2387A>C
NR_168441.1:n.1167-77627A>C
NR_168442.1:n.1698-2387A>C
NR_168443.1:n.1172-85190A>C
NR_168444.1:n.1167-66160A>C
NR_168445.1:n.1250-66160A>C