Canonical Allele Identifier: CA146023670

Gene:

Linked Data

• dbSNP Id: rs982505836
• gnomAD v2: 6-117771280-C-T
• gnomAD v3: 6-117450117-C-T
• gnomAD v4: 6-117450117-C-T
• MyVariant Identifiers: chr6:g.117771280C>T (hg19) ; chr6:g.117450117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450117C>T , CM000668.2:g.117450117C>T	GRCh38
NC_000006.11:g.117771280C>T , CM000668.1:g.117771280C>T	GRCh37
NC_000006.10:g.117877973C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116737G>A	ENSP00000487717.1:n.547+116737G>A