Canonical Allele Identifier: CA1345069673
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146434A= , CM000665.2:g.10146434A= GRCh38
NC_000003.11:g.10188118A= , CM000665.1:g.10188118A= GRCh37
NC_000003.10:g.10163118A= NCBI36
NG_008212.3:g.9800A= , LRG_322:g.9800A=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*18-80A= ENSP00000512434.1:n.*18-80A=
ENST00000696143.1:c.600-3353A= ENSP00000512435.1:n.600-3353A=
ENST00000696153.1:c.341-80A= ENSP00000512444.1:n.341-80A=
ENST00000256474.3:c.341-80A= MANE Select ENSP00000256474.3:n.341-80A=
ENST00000256474.2:c.341-80A= ENSP00000256474.2:n.341-80A=
ENST00000345392.2:c.341-3353A= ENSP00000344757.2:n.341-3353A=
ENST00000477538.1:n.477-80A=
NM_000551.3:c.341-80A= , LRG_322t1:c.341-80A= NP_000542.1:n.341-80A=
NM_198156.2:c.341-3353A= NP_937799.1:n.341-3353A=
XM_011534078.1:c.*18-80A= XP_011532380.1:n.*18-80A=
NM_001354723.1:c.*18-3353A= NP_001341652.1:n.*18-3353A=
NM_000551.4:c.341-80A= MANE Select NP_000542.1:n.341-80A=
NM_001354723.2:c.*18-3353A= NP_001341652.1:n.*18-3353A=
NM_198156.3:c.341-3353A= NP_937799.1:n.341-3353A=