Canonical Allele Identifier: CA291560732

Gene:

Linked Data

• dbSNP Id: rs575918873
• gnomAD v3: 17-50211586-C-T
• gnomAD v4: 17-50211586-C-T
• MyVariant Identifiers: chr17:g.48288947C>T (hg19) ; chr17:g.50211586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211586C>T , CM000679.2:g.50211586C>T	GRCh38
NC_000017.10:g.48288947C>T , CM000679.1:g.48288947C>T	GRCh37
NC_000017.9:g.45643946C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.42+2180C>T