Canonical Allele Identifier: CA2603260625

Gene:

Linked Data

• gnomAD v3: 6-117450153-C-T
• gnomAD v4: 6-117450153-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450153C>T , CM000668.2:g.117450153C>T	GRCh38
NC_000006.11:g.117771316C>T , CM000668.1:g.117771316C>T	GRCh37
NC_000006.10:g.117878009C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467125.1:c.547+116701G>A	ENSP00000487717.1:n.547+116701G>A