Canonical Allele Identifier: CA351756363
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 526686
ClinVar RCV Id: RCV000631285
dbSNP Id: rs768390987

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149876T>C , CM000665.2:g.10149876T>C GRCh38
NC_000003.11:g.10191560T>C , CM000665.1:g.10191560T>C GRCh37
NC_000003.10:g.10166560T>C NCBI36
NG_008212.3:g.13242T>C , LRG_322:g.13242T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*230T>C ENSP00000512434.1:n.*230T>C
ENST00000696143.1:c.689T>C ENSP00000512435.1:n.689T>C
ENST00000696153.1:c.664T>C ENSP00000512444.1:p.Tyr222His
ENST00000256474.3:c.553T>C MANE Select ENSP00000256474.3:p.Tyr185His
ENST00000256474.2:c.553T>C ENSP00000256474.2:p.Tyr185His
ENST00000345392.2:c.430T>C ENSP00000344757.2:p.Tyr144His
ENST00000477538.1:n.689T>C
NM_000551.3:c.553T>C , LRG_322t1:c.553T>C NP_000542.1:p.Tyr185His
NM_198156.2:c.430T>C NP_937799.1:p.Tyr144His
NM_001354723.1:c.*107T>C NP_001341652.1:n.*107T>C
NM_000551.4:c.553T>C MANE Select NP_000542.1:p.Tyr185His
NM_001354723.2:c.*107T>C NP_001341652.1:n.*107T>C
NM_198156.3:c.430T>C NP_937799.1:p.Tyr144His