Canonical Allele Identifier: CA1345065639
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142043G= , CM000665.2:g.10142043G= GRCh38
NC_000003.11:g.10183727G= , CM000665.1:g.10183727G= GRCh37
NC_000003.10:g.10158727G= NCBI36
NG_008212.3:g.5409G= , LRG_322:g.5409G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.196G= ENSP00000512434.1:p.Val66=
ENST00000696143.1:c.196G= ENSP00000512435.1:p.Val66=
ENST00000696153.1:c.196G= ENSP00000512444.1:p.Val66=
ENST00000256474.3:c.196G= MANE Select ENSP00000256474.3:p.Val66=
ENST00000256474.2:c.196G= ENSP00000256474.2:p.Val66=
ENST00000345392.2:c.196G= ENSP00000344757.2:p.Val66=
NM_000551.3:c.196G= , LRG_322t1:c.196G= NP_000542.1:p.Val66=
NM_198156.2:c.196G= NP_937799.1:p.Val66=
XM_011534078.1:c.196G= XP_011532380.1:p.Val66=
NM_001354723.1:c.196G= NP_001341652.1:p.Val66=
NM_000551.4:c.196G= MANE Select NP_000542.1:p.Val66=
NM_001354723.2:c.196G= NP_001341652.1:p.Val66=
NM_198156.3:c.196G= NP_937799.1:p.Val66=