Canonical Allele Identifier: CA1345063395
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150214T= , CM000665.2:g.10150214T= GRCh38
NC_000003.11:g.10191898T= , CM000665.1:g.10191898T= GRCh37
NC_000003.10:g.10166898T= NCBI36
NG_008212.3:g.13580T= , LRG_322:g.13580T=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*568T= ENSP00000512434.1:n.*568T=
ENST00000696143.1:c.1027T= ENSP00000512435.1:n.1027T=
ENST00000696153.1:c.*249T= ENSP00000512444.1:n.*249T=
ENST00000256474.3:c.*249T= MANE Select ENSP00000256474.3:n.*249T=
ENST00000256474.2:c.*249T= ENSP00000256474.2:n.*249T=
ENST00000345392.2:c.*249T= ENSP00000344757.2:n.*249T=
NM_000551.3:c.*249T= , LRG_322t1:c.*249T= NP_000542.1:n.*249T=
NM_198156.2:c.*249T= NP_937799.1:n.*249T=
NM_001354723.1:c.*445T= NP_001341652.1:n.*445T=
NM_000551.4:c.*249T= MANE Select NP_000542.1:n.*249T=
NM_001354723.2:c.*445T= NP_001341652.1:n.*445T=
NM_198156.3:c.*249T= NP_937799.1:n.*249T=