Canonical Allele Identifier: CA12248963

Gene:

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.127070699C>G , CM000668.2:g.127070699C>G	GRCh38
NC_000006.11:g.127391844C>G , CM000668.1:g.127391844C>G	GRCh37
NC_000006.10:g.127433537C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650648.1:n.476+313G>C
ENST00000650684.1:n.548+313G>C
ENST00000650727.1:n.515+313G>C
ENST00000650823.1:n.523+313G>C
ENST00000650876.1:n.305+313G>C
ENST00000650891.1:n.593+313G>C
ENST00000650899.1:n.542+313G>C
ENST00000650906.1:n.741+313G>C
ENST00000651038.1:n.546+313G>C
ENST00000651052.1:n.163+313G>C
ENST00000651273.1:n.564+313G>C
ENST00000651310.1:n.489+313G>C
ENST00000651326.1:n.479+313G>C
ENST00000651338.1:n.546+313G>C
ENST00000651607.1:n.473+106617G>C
ENST00000651745.1:n.243+313G>C
ENST00000651795.1:n.515+313G>C
ENST00000651850.1:n.564+313G>C
ENST00000651876.1:n.1071+313G>C
ENST00000651963.1:n.213+313G>C
ENST00000652037.1:n.425+313G>C
ENST00000652186.1:n.153+313G>C
ENST00000652330.1:n.539+313G>C
ENST00000652419.1:n.479G>C
ENST00000652459.1:n.509+313G>C
ENST00000652460.1:n.477+313G>C
ENST00000652545.1:n.564+313G>C
XR_942960.1:n.706+313G>C
XR_942961.1:n.138+313G>C
XR_942962.1:n.185+313G>C