Canonical Allele Identifier: CA569716191

Gene:

Linked Data

• dbSNP Id: rs1236785378
• gnomAD v2: 6-117771319-G-A
• gnomAD v3: 6-117450156-G-A
• gnomAD v4: 6-117450156-G-A
• MyVariant Identifiers: chr6:g.117771319G>A (hg19) ; chr6:g.117450156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450156G>A , CM000668.2:g.117450156G>A	GRCh38
NC_000006.11:g.117771319G>A , CM000668.1:g.117771319G>A	GRCh37
NC_000006.10:g.117878012G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116698C>T	ENSP00000487717.1:n.547+116698C>T