Canonical Allele Identifier: CA624727098

Gene:

Linked Data

• dbSNP Id: rs1368918417
• gnomAD v2: 17-8041116-A-C
• MyVariant Identifiers: chr17:g.8041116A>C (hg19) ; chr17:g.8137798A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137798A>C , CM000679.2:g.8137798A>C	GRCh38
NC_000017.10:g.8041116A>C , CM000679.1:g.8041116A>C	GRCh37
NC_000017.9:g.7981841A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1051A>C
XR_934203.1:n.70-1679A>C
XR_934202.2:n.414-1051A>C