Canonical Allele Identifier: CA147765875

Gene:

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.127114919C>T , CM000668.2:g.127114919C>T	GRCh38
NC_000006.11:g.127436064C>T , CM000668.1:g.127436064C>T	GRCh37
NC_000006.10:g.127477757C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650648.1:n.402-43833G>A
ENST00000650684.1:n.474-43833G>A
ENST00000650727.1:n.441-43833G>A
ENST00000650823.1:n.449-43833G>A
ENST00000650841.1:n.441-18366G>A
ENST00000650876.1:n.230+4418G>A
ENST00000650891.1:n.518+4418G>A
ENST00000650899.1:n.468-43833G>A
ENST00000650906.1:n.666+4418G>A
ENST00000651038.1:n.472-43833G>A
ENST00000651052.1:n.89-43833G>A
ENST00000651273.1:n.490-43833G>A
ENST00000651310.1:n.296+3982G>A
ENST00000651326.1:n.404+4418G>A
ENST00000651338.1:n.472-43833G>A
ENST00000651607.1:n.473+62397G>A
ENST00000651745.1:n.50+3982G>A
ENST00000651795.1:n.441-43833G>A
ENST00000651850.1:n.490-43833G>A
ENST00000651876.1:n.996+4418G>A
ENST00000651963.1:n.139-43833G>A
ENST00000652037.1:n.350+4418G>A
ENST00000652186.1:n.78+3982G>A
ENST00000652330.1:n.465-43833G>A
ENST00000652419.1:n.92-43833G>A
ENST00000652459.1:n.435-43833G>A
ENST00000652460.1:n.402+4418G>A
ENST00000652545.1:n.490-43833G>A
XR_942960.1:n.631+4418G>A
XR_942961.1:n.63+3982G>A