Canonical Allele Identifier: CA1345060804
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10148499A= , CM000665.2:g.10148499A= GRCh38
NC_000003.11:g.10190183A= , CM000665.1:g.10190183A= GRCh37
NC_000003.10:g.10165183A= NCBI36
NG_008212.3:g.11865A= , LRG_322:g.11865A=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*141-1288A= ENSP00000512434.1:n.*141-1288A=
ENST00000696143.1:c.600-1288A= ENSP00000512435.1:n.600-1288A=
ENST00000696153.1:c.464-205A= ENSP00000512444.1:n.464-205A=
ENST00000256474.3:c.464-1288A= MANE Select ENSP00000256474.3:n.464-1288A=
ENST00000256474.2:c.464-1288A= ENSP00000256474.2:n.464-1288A=
ENST00000345392.2:c.341-1288A= ENSP00000344757.2:n.341-1288A=
ENST00000477538.1:n.600-1288A=
NM_000551.3:c.464-1288A= , LRG_322t1:c.464-1288A= NP_000542.1:n.464-1288A=
NM_198156.2:c.341-1288A= NP_937799.1:n.341-1288A=
NM_001354723.1:c.*18-1288A= NP_001341652.1:n.*18-1288A=
NM_000551.4:c.464-1288A= MANE Select NP_000542.1:n.464-1288A=
NM_001354723.2:c.*18-1288A= NP_001341652.1:n.*18-1288A=
NM_198156.3:c.341-1288A= NP_937799.1:n.341-1288A=