Canonical Allele Identifier: CA400232940

Gene:

Linked Data

• dbSNP Id: rs8071055
• gnomAD v2: 17-48288940-C-G
• gnomAD v3: 17-50211579-C-G
• gnomAD v4: 17-50211579-C-G
• MyVariant Identifiers: chr17:g.48288940C>G (hg19) ; chr17:g.50211579C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211579C>G , CM000679.2:g.50211579C>G	GRCh38
NC_000017.10:g.48288940C>G , CM000679.1:g.48288940C>G	GRCh37
NC_000017.9:g.45643939C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.42+2173C>G