Canonical Allele Identifier: CA1345059033
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146721A= , CM000665.2:g.10146721A= GRCh38
NC_000003.11:g.10188405A= , CM000665.1:g.10188405A= GRCh37
NC_000003.10:g.10163405A= NCBI36
NG_008212.3:g.10087A= , LRG_322:g.10087A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*140+85A= ENSP00000512434.1:n.*140+85A=
ENST00000696143.1:c.600-3066A= ENSP00000512435.1:n.600-3066A=
ENST00000696153.1:c.463+85A= ENSP00000512444.1:n.463+85A=
ENST00000256474.3:c.463+85A= MANE Select ENSP00000256474.3:n.463+85A=
ENST00000256474.2:c.463+85A= ENSP00000256474.2:n.463+85A=
ENST00000345392.2:c.341-3066A= ENSP00000344757.2:n.341-3066A=
ENST00000477538.1:n.599+85A=
NM_000551.3:c.463+85A= , LRG_322t1:c.463+85A= NP_000542.1:n.463+85A=
NM_198156.2:c.341-3066A= NP_937799.1:n.341-3066A=
NM_001354723.1:c.*18-3066A= NP_001341652.1:n.*18-3066A=
NM_000551.4:c.463+85A= MANE Select NP_000542.1:n.463+85A=
NM_001354723.2:c.*18-3066A= NP_001341652.1:n.*18-3066A=
NM_198156.3:c.341-3066A= NP_937799.1:n.341-3066A=