Canonical Allele Identifier: CA775632475
Gene:

Linked Data

dbSNP Id: rs1469031337
gnomAD v3: 17-8137856-A-C
gnomAD v4: 17-8137856-A-C
MyVariant Identifiers: chr17:g.8041174A>C (hg19) chr17:g.8137856A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137856A>C , CM000679.2:g.8137856A>C GRCh38
NC_000017.10:g.8041174A>C , CM000679.1:g.8041174A>C GRCh37
NC_000017.9:g.7981899A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-993A>C
XR_934203.1:n.70-1621A>C
XR_934202.2:n.414-993A>C
Search 100 bp 5'
Search 100 bp 3'