Canonical Allele Identifier: CA146023609

Gene:

Linked Data

• dbSNP Id: rs890682411
• gnomAD v2: 6-117771196-A-C
• gnomAD v3: 6-117450033-A-C
• gnomAD v4: 6-117450033-A-C
• MyVariant Identifiers: chr6:g.117771196A>C (hg19) ; chr6:g.117450033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450033A>C , CM000668.2:g.117450033A>C	GRCh38
NC_000006.11:g.117771196A>C , CM000668.1:g.117771196A>C	GRCh37
NC_000006.10:g.117877889A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467125.1:c.547+116821T>G	ENSP00000487717.1:n.547+116821T>G