Canonical Allele Identifier: CA1345069735
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146518C= , CM000665.2:g.10146518C= GRCh38
NC_000003.11:g.10188202C= , CM000665.1:g.10188202C= GRCh37
NC_000003.10:g.10163202C= NCBI36
NG_008212.3:g.9884C= , LRG_322:g.9884C=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*22C= ENSP00000512434.1:n.*22C=
ENST00000696143.1:c.600-3269C= ENSP00000512435.1:n.600-3269C=
ENST00000696153.1:c.345C= ENSP00000512444.1:p.His115=
ENST00000256474.3:c.345C= MANE Select ENSP00000256474.3:p.His115=
ENST00000256474.2:c.345C= ENSP00000256474.2:p.His115=
ENST00000345392.2:c.341-3269C= ENSP00000344757.2:n.341-3269C=
ENST00000477538.1:n.481C=
NM_000551.3:c.345C= , LRG_322t1:c.345C= NP_000542.1:p.His115=
NM_198156.2:c.341-3269C= NP_937799.1:n.341-3269C=
XM_011534078.1:c.*22C= XP_011532380.1:n.*22C=
NM_001354723.1:c.*18-3269C= NP_001341652.1:n.*18-3269C=
NM_000551.4:c.345C= MANE Select NP_000542.1:p.His115=
NM_001354723.2:c.*18-3269C= NP_001341652.1:n.*18-3269C=
NM_198156.3:c.341-3269C= NP_937799.1:n.341-3269C=