Canonical Allele Identifier: CA146023615

Gene:

Linked Data

• dbSNP Id: rs1038303210
• gnomAD v3: 6-117450036-G-T
• gnomAD v4: 6-117450036-G-T
• MyVariant Identifiers: chr6:g.117771199G>T (hg19) ; chr6:g.117450036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450036G>T , CM000668.2:g.117450036G>T	GRCh38
NC_000006.11:g.117771199G>T , CM000668.1:g.117771199G>T	GRCh37
NC_000006.10:g.117877892G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467125.1:c.547+116818C>A	ENSP00000487717.1:n.547+116818C>A