Canonical Allele Identifier: CA351750722
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 821712
ClinVar RCV Id: RCV001016401
dbSNP Id: rs1559426039
gnomAD v4: 3-10142118-T-C
COSMIC: COSM18061

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142118T>C , CM000665.2:g.10142118T>C GRCh38
NC_000003.11:g.10183802T>C , CM000665.1:g.10183802T>C GRCh37
NC_000003.10:g.10158802T>C NCBI36
NG_008212.3:g.5484T>C , LRG_322:g.5484T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.271T>C ENSP00000512434.1:p.Phe91Leu
ENST00000696143.1:c.271T>C ENSP00000512435.1:p.Phe91Leu
ENST00000696153.1:c.271T>C ENSP00000512444.1:p.Phe91Leu
ENST00000256474.3:c.271T>C MANE Select ENSP00000256474.3:p.Phe91Leu
ENST00000256474.2:c.271T>C ENSP00000256474.2:p.Phe91Leu
ENST00000345392.2:c.271T>C ENSP00000344757.2:p.Phe91Leu
NM_000551.3:c.271T>C , LRG_322t1:c.271T>C NP_000542.1:p.Phe91Leu
NM_198156.2:c.271T>C NP_937799.1:p.Phe91Leu
XM_011534078.1:c.271T>C XP_011532380.1:p.Phe91Leu
NM_001354723.1:c.271T>C NP_001341652.1:p.Phe91Leu
NM_000551.4:c.271T>C MANE Select NP_000542.1:p.Phe91Leu
NM_001354723.2:c.271T>C NP_001341652.1:p.Phe91Leu
NM_198156.3:c.271T>C NP_937799.1:p.Phe91Leu