Canonical Allele Identifier: CA773444782

Gene:

Linked Data

• dbSNP Id: rs1484942282
• gnomAD v3: 17-57788867-A-G
• gnomAD v4: 17-57788867-A-G
• MyVariant Identifiers: chr17:g.55866228A>G (hg19) ; chr17:g.57788867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.57788867A>G , CM000679.2:g.57788867A>G	GRCh38
NC_000017.10:g.55866228A>G , CM000679.1:g.55866228A>G	GRCh37
NC_000017.9:g.53221227A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934881.1:n.1608-16671T>C
XR_934881.3:n.3815-16671T>C