Canonical Allele Identifier: CA351756178
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 526685
ClinVar RCV Id: RCV000631284
dbSNP Id: rs5030821

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149823G>T , CM000665.2:g.10149823G>T GRCh38
NC_000003.11:g.10191507G>T , CM000665.1:g.10191507G>T GRCh37
NC_000003.10:g.10166507G>T NCBI36
NG_008212.3:g.13189G>T , LRG_322:g.13189G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*177G>T ENSP00000512434.1:n.*177G>T
ENST00000696143.1:c.636G>T ENSP00000512435.1:n.636G>T
ENST00000696153.1:c.611G>T ENSP00000512444.1:p.Arg204Leu
ENST00000256474.3:c.500G>T MANE Select ENSP00000256474.3:p.Arg167Leu
ENST00000256474.2:c.500G>T ENSP00000256474.2:p.Arg167Leu
ENST00000345392.2:c.377G>T ENSP00000344757.2:p.Arg126Leu
ENST00000477538.1:n.636G>T
NM_000551.3:c.500G>T , LRG_322t1:c.500G>T NP_000542.1:p.Arg167Leu
NM_198156.2:c.377G>T NP_937799.1:p.Arg126Leu
NM_001354723.1:c.*54G>T NP_001341652.1:n.*54G>T
NM_000551.4:c.500G>T MANE Select NP_000542.1:p.Arg167Leu
NM_001354723.2:c.*54G>T NP_001341652.1:n.*54G>T
NM_198156.3:c.377G>T NP_937799.1:p.Arg126Leu