Canonical Allele Identifier: CA1345069565
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146250G= , CM000665.2:g.10146250G= GRCh38
NC_000003.11:g.10187934G= , CM000665.1:g.10187934G= GRCh37
NC_000003.10:g.10162934G= NCBI36
NG_008212.3:g.9616G= , LRG_322:g.9616G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*18-264G= ENSP00000512434.1:n.*18-264G=
ENST00000696143.1:c.599+3229G= ENSP00000512435.1:n.599+3229G=
ENST00000696153.1:c.341-264G= ENSP00000512444.1:n.341-264G=
ENST00000256474.3:c.341-264G= MANE Select ENSP00000256474.3:n.341-264G=
ENST00000256474.2:c.341-264G= ENSP00000256474.2:n.341-264G=
ENST00000345392.2:c.341-3537G= ENSP00000344757.2:n.341-3537G=
ENST00000477538.1:n.477-264G=
NM_000551.3:c.341-264G= , LRG_322t1:c.341-264G= NP_000542.1:n.341-264G=
NM_198156.2:c.341-3537G= NP_937799.1:n.341-3537G=
XM_011534078.1:c.*18-264G= XP_011532380.1:n.*18-264G=
NM_001354723.1:c.*17+3229G= NP_001341652.1:n.*17+3229G=
NM_000551.4:c.341-264G= MANE Select NP_000542.1:n.341-264G=
NM_001354723.2:c.*17+3229G= NP_001341652.1:n.*17+3229G=
NM_198156.3:c.341-3537G= NP_937799.1:n.341-3537G=