Canonical Allele Identifier: CA1345069584
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146278A= , CM000665.2:g.10146278A= GRCh38
NC_000003.11:g.10187962A= , CM000665.1:g.10187962A= GRCh37
NC_000003.10:g.10162962A= NCBI36
NG_008212.3:g.9644A= , LRG_322:g.9644A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*18-236A= ENSP00000512434.1:n.*18-236A=
ENST00000696143.1:c.599+3257A= ENSP00000512435.1:n.599+3257A=
ENST00000696153.1:c.341-236A= ENSP00000512444.1:n.341-236A=
ENST00000256474.3:c.341-236A= MANE Select ENSP00000256474.3:n.341-236A=
ENST00000256474.2:c.341-236A= ENSP00000256474.2:n.341-236A=
ENST00000345392.2:c.341-3509A= ENSP00000344757.2:n.341-3509A=
ENST00000477538.1:n.477-236A=
NM_000551.3:c.341-236A= , LRG_322t1:c.341-236A= NP_000542.1:n.341-236A=
NM_198156.2:c.341-3509A= NP_937799.1:n.341-3509A=
XM_011534078.1:c.*18-236A= XP_011532380.1:n.*18-236A=
NM_001354723.1:c.*17+3257A= NP_001341652.1:n.*17+3257A=
NM_000551.4:c.341-236A= MANE Select NP_000542.1:n.341-236A=
NM_001354723.2:c.*17+3257A= NP_001341652.1:n.*17+3257A=
NM_198156.3:c.341-3509A= NP_937799.1:n.341-3509A=