Canonical Allele Identifier: CA10614821
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 342408
ClinVar RCV Id: RCV000393512
dbSNP Id: rs573000980

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150268A>T , CM000665.2:g.10150268A>T GRCh38
NC_000003.11:g.10191952A>T , CM000665.1:g.10191952A>T GRCh37
NC_000003.10:g.10166952A>T NCBI36
NG_008212.3:g.13634A>T , LRG_322:g.13634A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*303A>T MANE Select ENSP00000256474.3:p.=
ENST00000256474.2:c.*303A>T ENSP00000256474.2:p.=
ENST00000345392.2:c.*303A>T ENSP00000344757.2:p.=
NM_000551.3:c.*303A>T , LRG_322t1:c.*303A>T NP_000542.1:p.=
NM_198156.2:c.*303A>T NP_937799.1:p.=
NM_001354723.1:c.*499A>T NP_001341652.1:p.=
NM_000551.4:c.*303A>T MANE Select NP_000542.1:p.=
NM_001354723.2:c.*499A>T NP_001341652.1:p.=
NM_198156.3:c.*303A>T NP_937799.1:p.=