Canonical Allele Identifier: CA146023684

Gene:

Linked Data

• dbSNP Id: rs980468870
• gnomAD v2: 6-117771343-A-G
• gnomAD v3: 6-117450180-A-G
• gnomAD v4: 6-117450180-A-G
• MyVariant Identifiers: chr6:g.117771343A>G (hg19) ; chr6:g.117450180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450180A>G , CM000668.2:g.117450180A>G	GRCh38
NC_000006.11:g.117771343A>G , CM000668.1:g.117771343A>G	GRCh37
NC_000006.10:g.117878036A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116674T>C	ENSP00000487717.1:n.547+116674T>C