Canonical Allele Identifier: CA287548479

Gene:

Linked Data

• dbSNP Id: rs142766228
• gnomAD v2: 17-8040635-G-A
• gnomAD v3: 17-8137317-G-A
• gnomAD v4: 17-8137317-G-A
• MyVariant Identifiers: chr17:g.8040635G>A (hg19) ; chr17:g.8137317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137317G>A , CM000679.2:g.8137317G>A	GRCh38
NC_000017.10:g.8040635G>A , CM000679.1:g.8040635G>A	GRCh37
NC_000017.9:g.7981360G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1532G>A
XR_934203.1:n.70-2160G>A
XR_934202.2:n.414-1532G>A