Canonical Allele Identifier: CA624727085

Gene:

Linked Data

• dbSNP Id: rs1463909253
• gnomAD v2: 17-8040756-T-C
• gnomAD v3: 17-8137438-T-C
• gnomAD v4: 17-8137438-T-C
• MyVariant Identifiers: chr17:g.8040756T>C (hg19) ; chr17:g.8137438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137438T>C , CM000679.2:g.8137438T>C	GRCh38
NC_000017.10:g.8040756T>C , CM000679.1:g.8040756T>C	GRCh37
NC_000017.9:g.7981481T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1411T>C
XR_934203.1:n.70-2039T>C
XR_934202.2:n.414-1411T>C