Canonical Allele Identifier: CA351756416
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2937784
ClinVar RCV Id: RCV003794414
dbSNP Id: rs28940301
gnomAD v4: 3-10149894-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149894C>T , CM000665.2:g.10149894C>T GRCh38
NC_000003.11:g.10191578C>T , CM000665.1:g.10191578C>T GRCh37
NC_000003.10:g.10166578C>T NCBI36
NG_008212.3:g.13260C>T , LRG_322:g.13260C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*248C>T ENSP00000512434.1:n.*248C>T
ENST00000696143.1:c.707C>T ENSP00000512435.1:n.707C>T
ENST00000696153.1:c.682C>T ENSP00000512444.1:p.His228Tyr
ENST00000256474.3:c.571C>T MANE Select ENSP00000256474.3:p.His191Tyr
ENST00000256474.2:c.571C>T ENSP00000256474.2:p.His191Tyr
ENST00000345392.2:c.448C>T ENSP00000344757.2:p.His150Tyr
ENST00000477538.1:n.707C>T
NM_000551.3:c.571C>T , LRG_322t1:c.571C>T NP_000542.1:p.His191Tyr
NM_198156.2:c.448C>T NP_937799.1:p.His150Tyr
NM_001354723.1:c.*125C>T NP_001341652.1:n.*125C>T
NM_000551.4:c.571C>T MANE Select NP_000542.1:p.His191Tyr
NM_001354723.2:c.*125C>T NP_001341652.1:n.*125C>T
NM_198156.3:c.448C>T NP_937799.1:p.His150Tyr