Canonical Allele Identifier: CA1345063391
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150206G= , CM000665.2:g.10150206G= GRCh38
NC_000003.11:g.10191890G= , CM000665.1:g.10191890G= GRCh37
NC_000003.10:g.10166890G= NCBI36
NG_008212.3:g.13572G= , LRG_322:g.13572G=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*560G= ENSP00000512434.1:n.*560G=
ENST00000696143.1:c.1019G= ENSP00000512435.1:n.1019G=
ENST00000696153.1:c.*241G= ENSP00000512444.1:n.*241G=
ENST00000256474.3:c.*241G= MANE Select ENSP00000256474.3:n.*241G=
ENST00000256474.2:c.*241G= ENSP00000256474.2:n.*241G=
ENST00000345392.2:c.*241G= ENSP00000344757.2:n.*241G=
NM_000551.3:c.*241G= , LRG_322t1:c.*241G= NP_000542.1:n.*241G=
NM_198156.2:c.*241G= NP_937799.1:n.*241G=
NM_001354723.1:c.*437G= NP_001341652.1:n.*437G=
NM_000551.4:c.*241G= MANE Select NP_000542.1:n.*241G=
NM_001354723.2:c.*437G= NP_001341652.1:n.*437G=
NM_198156.3:c.*241G= NP_937799.1:n.*241G=