Canonical Allele Identifier: CA287548583

Gene:

Linked Data

• dbSNP Id: rs950240117
• gnomAD v2: 17-8040857-C-T
• MyVariant Identifiers: chr17:g.8040857C>T (hg19) ; chr17:g.8137539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137539C>T , CM000679.2:g.8137539C>T	GRCh38
NC_000017.10:g.8040857C>T , CM000679.1:g.8040857C>T	GRCh37
NC_000017.9:g.7981582C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1310C>T
XR_934203.1:n.70-1938C>T
XR_934202.2:n.414-1310C>T