Canonical Allele Identifier: CA775632224

Gene:

Linked Data

• dbSNP Id: rs1351568288
• gnomAD v3: 17-8137276-T-C
• gnomAD v4: 17-8137276-T-C
• MyVariant Identifiers: chr17:g.8040594T>C (hg19) ; chr17:g.8137276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137276T>C , CM000679.2:g.8137276T>C	GRCh38
NC_000017.10:g.8040594T>C , CM000679.1:g.8040594T>C	GRCh37
NC_000017.9:g.7981319T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1573T>C
XR_934203.1:n.70-2201T>C
XR_934202.2:n.414-1573T>C