Canonical Allele Identifier: CA1049292726
Gene:

Linked Data

gnomAD v3: 3-70577114-G-T
gnomAD v4: 3-70577114-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.70577114G>T , CM000665.2:g.70577114G>T GRCh38
NC_000003.11:g.70626265G>T , CM000665.1:g.70626265G>T GRCh37
NC_000003.10:g.70708955G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940947.1:n.407-1161C>A
XR_001740559.1:n.367-1161C>A