Canonical Allele Identifier: CA351756408
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149891G>T , CM000665.2:g.10149891G>T GRCh38
NC_000003.11:g.10191575G>T , CM000665.1:g.10191575G>T GRCh37
NC_000003.10:g.10166575G>T NCBI36
NG_008212.3:g.13257G>T , LRG_322:g.13257G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*245G>T ENSP00000512434.1:n.*245G>T
ENST00000696143.1:c.704G>T ENSP00000512435.1:n.704G>T
ENST00000696153.1:c.679G>T ENSP00000512444.1:p.Asp227Tyr
ENST00000256474.3:c.568G>T MANE Select ENSP00000256474.3:p.Asp190Tyr
ENST00000256474.2:c.568G>T ENSP00000256474.2:p.Asp190Tyr
ENST00000345392.2:c.445G>T ENSP00000344757.2:p.Asp149Tyr
ENST00000477538.1:n.704G>T
NM_000551.3:c.568G>T , LRG_322t1:c.568G>T NP_000542.1:p.Asp190Tyr
NM_198156.2:c.445G>T NP_937799.1:p.Asp149Tyr
NM_001354723.1:c.*122G>T NP_001341652.1:n.*122G>T
NM_000551.4:c.568G>T MANE Select NP_000542.1:p.Asp190Tyr
NM_001354723.2:c.*122G>T NP_001341652.1:n.*122G>T
NM_198156.3:c.445G>T NP_937799.1:p.Asp149Tyr