Canonical Allele Identifier: CA1345068318
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10143800T= , CM000665.2:g.10143800T= GRCh38
NC_000003.11:g.10185484T= , CM000665.1:g.10185484T= GRCh37
NC_000003.10:g.10160484T= NCBI36
NG_008212.3:g.7166T= , LRG_322:g.7166T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*17+779T= ENSP00000512434.1:n.*17+779T=
ENST00000696143.1:c.599+779T= ENSP00000512435.1:n.599+779T=
ENST00000696153.1:c.340+1613T= ENSP00000512444.1:n.340+1613T=
ENST00000256474.3:c.340+1613T= MANE Select ENSP00000256474.3:n.340+1613T=
ENST00000256474.2:c.340+1613T= ENSP00000256474.2:n.340+1613T=
ENST00000345392.2:c.340+1613T= ENSP00000344757.2:n.340+1613T=
ENST00000477538.1:n.476+779T=
NM_000551.3:c.340+1613T= , LRG_322t1:c.340+1613T= NP_000542.1:n.340+1613T=
NM_198156.2:c.340+1613T= NP_937799.1:n.340+1613T=
XM_011534078.1:c.*17+779T= XP_011532380.1:n.*17+779T=
NM_001354723.1:c.*17+779T= NP_001341652.1:n.*17+779T=
NM_000551.4:c.340+1613T= MANE Select NP_000542.1:n.340+1613T=
NM_001354723.2:c.*17+779T= NP_001341652.1:n.*17+779T=
NM_198156.3:c.340+1613T= NP_937799.1:n.340+1613T=