Canonical Allele Identifier: CA1093601944

Gene:

Linked Data

• dbSNP Id: rs1776569287
• gnomAD v3: 6-117450121-T-G
• gnomAD v4: 6-117450121-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450121T>G , CM000668.2:g.117450121T>G	GRCh38
NC_000006.11:g.117771284T>G , CM000668.1:g.117771284T>G	GRCh37
NC_000006.10:g.117877977T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116733A>C	ENSP00000487717.1:n.547+116733A>C