Canonical Allele Identifier: CA626487386

Gene:

Linked Data

• dbSNP Id: rs1326551236
• gnomAD v2: 17-48289151-T-C
• MyVariant Identifiers: chr17:g.48289151T>C (hg19) ; chr17:g.50211790T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211790T>C , CM000679.2:g.50211790T>C	GRCh38
NC_000017.10:g.48289151T>C , CM000679.1:g.48289151T>C	GRCh37
NC_000017.9:g.45644150T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2045T>C