Canonical Allele Identifier: CA846959275
Gene:

Linked Data

dbSNP Id: rs1167276988
gnomAD v3: 8-125478814-A-C
gnomAD v4: 8-125478814-A-C
MyVariant Identifiers: chr8:g.126491056A>C (hg19) chr8:g.125478814A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478814A>C , CM000670.2:g.125478814A>C GRCh38
NC_000008.10:g.126491056A>C , CM000670.1:g.126491056A>C GRCh37
NC_000008.9:g.126560238A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5500A>C
Search 100 bp 5'
Search 100 bp 3'