Canonical Allele Identifier: CA775632438

Gene:

Linked Data

• dbSNP Id: rs1164629253
• gnomAD v3: 17-8137811-C-T
• gnomAD v4: 17-8137811-C-T
• MyVariant Identifiers: chr17:g.8041129C>T (hg19) ; chr17:g.8137811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137811C>T , CM000679.2:g.8137811C>T	GRCh38
NC_000017.10:g.8041129C>T , CM000679.1:g.8041129C>T	GRCh37
NC_000017.9:g.7981854C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1038C>T
XR_934203.1:n.70-1666C>T
XR_934202.2:n.414-1038C>T