Canonical Allele Identifier: CA1093601950

Gene:

Linked Data

• dbSNP Id: rs1776570944
• gnomAD v3: 6-117450192-C-T
• gnomAD v4: 6-117450192-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450192C>T , CM000668.2:g.117450192C>T	GRCh38
NC_000006.11:g.117771355C>T , CM000668.1:g.117771355C>T	GRCh37
NC_000006.10:g.117878048C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116662G>A	ENSP00000487717.1:n.547+116662G>A