Canonical Allele Identifier: CA2566207041
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10141741-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141741G>A , CM000665.2:g.10141741G>A GRCh38
NC_000003.11:g.10183425G>A , CM000665.1:g.10183425G>A GRCh37
NC_000003.10:g.10158425G>A NCBI36
NG_008212.3:g.5107G>A , LRG_322:g.5107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-107G>A ENSP00000256474.2:n.-107G>A
NM_000551.3:c.-107G>A , LRG_322t1:c.-107G>A NP_000542.1:n.-107G>A
NM_198156.2:c.-107G>A NP_937799.1:n.-107G>A
NM_001354723.1:c.-107G>A NP_001341652.1:n.-107G>A
Search 100 bp 5'
Search 100 bp 3'