Canonical Allele Identifier: CA774637012

Gene:

Linked Data

• dbSNP Id: rs1362118171
• gnomAD v3: 17-70831960-C-G
• gnomAD v4: 17-70831960-C-G
• MyVariant Identifiers: chr17:g.68828101C>G (hg19) ; chr17:g.70831960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.70831960C>G , CM000679.2:g.70831960C>G	GRCh38
NC_000017.10:g.68828101C>G , CM000679.1:g.68828101C>G	GRCh37
NC_000017.9:g.66339696C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_934956.1:n.62+3254G>C
XR_934956.2:n.114+3254G>C