Canonical Allele Identifier: CA287548672

Gene:

Linked Data

• dbSNP Id: rs745409326
• gnomAD v3: 17-8137787-G-C
• gnomAD v4: 17-8137787-G-C
• MyVariant Identifiers: chr17:g.8041105G>C (hg19) ; chr17:g.8137787G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137787G>C , CM000679.2:g.8137787G>C	GRCh38
NC_000017.10:g.8041105G>C , CM000679.1:g.8041105G>C	GRCh37
NC_000017.9:g.7981830G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1062G>C
XR_934203.1:n.70-1690G>C
XR_934202.2:n.414-1062G>C