Canonical Allele Identifier: CA292625006

Gene:

Linked Data

• dbSNP Id: rs948689951
• gnomAD v2: 17-55866237-G-A
• gnomAD v3: 17-57788876-G-A
• gnomAD v4: 17-57788876-G-A
• MyVariant Identifiers: chr17:g.55866237G>A (hg19) ; chr17:g.57788876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.57788876G>A , CM000679.2:g.57788876G>A	GRCh38
NC_000017.10:g.55866237G>A , CM000679.1:g.55866237G>A	GRCh37
NC_000017.9:g.53221236G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934881.1:n.1608-16680C>T
XR_934881.3:n.3815-16680C>T