Canonical Allele Identifier: CA146023625

Gene:

Linked Data

• dbSNP Id: rs533084206
• gnomAD v2: 6-117771209-G-T
• gnomAD v3: 6-117450046-G-T
• gnomAD v4: 6-117450046-G-T
• MyVariant Identifiers: chr6:g.117771209G>T (hg19) ; chr6:g.117450046G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450046G>T , CM000668.2:g.117450046G>T	GRCh38
NC_000006.11:g.117771209G>T , CM000668.1:g.117771209G>T	GRCh37
NC_000006.10:g.117877902G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116808C>A	ENSP00000487717.1:n.547+116808C>A