Canonical Allele Identifier: CA647445613
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs890663423
gnomAD v4: 3-10141714-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141714G>C , CM000665.2:g.10141714G>C GRCh38
NC_000003.11:g.10183398G>C , CM000665.1:g.10183398G>C GRCh37
NC_000003.10:g.10158398G>C NCBI36
NG_008212.3:g.5080G>C , LRG_322:g.5080G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-134G>C ENSP00000256474.2:n.-134G>C
NM_000551.3:c.-134G>C , LRG_322t1:c.-134G>C NP_000542.1:n.-134G>C
NM_198156.2:c.-134G>C NP_937799.1:n.-134G>C
NM_001354723.1:c.-134G>C NP_001341652.1:n.-134G>C