Canonical Allele Identifier: CA624727080

Gene:

Linked Data

• dbSNP Id: rs1244551374
• gnomAD v2: 17-8040679-C-A
• gnomAD v3: 17-8137361-C-A
• gnomAD v4: 17-8137361-C-A
• MyVariant Identifiers: chr17:g.8040679C>A (hg19) ; chr17:g.8137361C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8137361C>A , CM000679.2:g.8137361C>A	GRCh38
NC_000017.10:g.8040679C>A , CM000679.1:g.8040679C>A	GRCh37
NC_000017.9:g.7981404C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934202.1:n.183-1488C>A
XR_934203.1:n.70-2116C>A
XR_934202.2:n.414-1488C>A