Canonical Allele Identifier: CA772782718

Gene:

Linked Data

• dbSNP Id: rs1444726542
• gnomAD v3: 17-50211794-T-C
• gnomAD v4: 17-50211794-T-C
• MyVariant Identifiers: chr17:g.48289155T>C (hg19) ; chr17:g.50211794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211794T>C , CM000679.2:g.50211794T>C	GRCh38
NC_000017.10:g.48289155T>C , CM000679.1:g.48289155T>C	GRCh37
NC_000017.9:g.45644154T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2041T>C