Canonical Allele Identifier: CA1345064933
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152004T= , CM000665.2:g.10152004T= GRCh38
NC_000003.11:g.10193688T= , CM000665.1:g.10193688T= GRCh37
NC_000003.10:g.10168688T= NCBI36
NG_008212.3:g.15370T= , LRG_322:g.15370T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696143.1:c.2817T= ENSP00000512435.1:n.2817T=
ENST00000696153.1:c.*2039T= ENSP00000512444.1:n.*2039T=
ENST00000256474.3:c.*2039T= MANE Select ENSP00000256474.3:n.*2039T=
ENST00000256474.2:c.*2039T= ENSP00000256474.2:n.*2039T=
ENST00000345392.2:c.*2039T= ENSP00000344757.2:n.*2039T=
NM_000551.3:c.*2039T= , LRG_322t1:c.*2039T= NP_000542.1:n.*2039T=
NM_198156.2:c.*2039T= NP_937799.1:n.*2039T=
NM_001354723.1:c.*2235T= NP_001341652.1:n.*2235T=
NM_000551.4:c.*2039T= MANE Select NP_000542.1:n.*2039T=
NM_001354723.2:c.*2235T= NP_001341652.1:n.*2235T=
NM_198156.3:c.*2039T= NP_937799.1:n.*2039T=