Canonical Allele Identifier: CA1345062072
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149752G= , CM000665.2:g.10149752G= GRCh38
NC_000003.11:g.10191436G= , CM000665.1:g.10191436G= GRCh37
NC_000003.10:g.10166436G= NCBI36
NG_008212.3:g.13118G= , LRG_322:g.13118G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*141-35G= ENSP00000512434.1:n.*141-35G=
ENST00000696143.1:c.600-35G= ENSP00000512435.1:n.600-35G=
ENST00000696153.1:c.575-35G= ENSP00000512444.1:n.575-35G=
ENST00000256474.3:c.464-35G= MANE Select ENSP00000256474.3:n.464-35G=
ENST00000256474.2:c.464-35G= ENSP00000256474.2:n.464-35G=
ENST00000345392.2:c.341-35G= ENSP00000344757.2:n.341-35G=
ENST00000477538.1:n.600-35G=
NM_000551.3:c.464-35G= , LRG_322t1:c.464-35G= NP_000542.1:n.464-35G=
NM_198156.2:c.341-35G= NP_937799.1:n.341-35G=
NM_001354723.1:c.*18-35G= NP_001341652.1:n.*18-35G=
NM_000551.4:c.464-35G= MANE Select NP_000542.1:n.464-35G=
NM_001354723.2:c.*18-35G= NP_001341652.1:n.*18-35G=
NM_198156.3:c.341-35G= NP_937799.1:n.341-35G=