Canonical Allele Identifier: CA2603260626

Gene:

Linked Data

• gnomAD v3: 6-117450161-A-G
• gnomAD v4: 6-117450161-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450161A>G , CM000668.2:g.117450161A>G	GRCh38
NC_000006.11:g.117771324A>G , CM000668.1:g.117771324A>G	GRCh37
NC_000006.10:g.117878017A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116693T>C	ENSP00000487717.1:n.547+116693T>C