Canonical Allele Identifier: CA1345064896
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10151942T= , CM000665.2:g.10151942T= GRCh38
NC_000003.11:g.10193626T= , CM000665.1:g.10193626T= GRCh37
NC_000003.10:g.10168626T= NCBI36
NG_008212.3:g.15308T= , LRG_322:g.15308T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696143.1:c.2755T= ENSP00000512435.1:n.2755T=
ENST00000696153.1:c.*1977T= ENSP00000512444.1:n.*1977T=
ENST00000256474.3:c.*1977T= MANE Select ENSP00000256474.3:n.*1977T=
ENST00000256474.2:c.*1977T= ENSP00000256474.2:n.*1977T=
ENST00000345392.2:c.*1977T= ENSP00000344757.2:n.*1977T=
NM_000551.3:c.*1977T= , LRG_322t1:c.*1977T= NP_000542.1:n.*1977T=
NM_198156.2:c.*1977T= NP_937799.1:n.*1977T=
NM_001354723.1:c.*2173T= NP_001341652.1:n.*2173T=
NM_000551.4:c.*1977T= MANE Select NP_000542.1:n.*1977T=
NM_001354723.2:c.*2173T= NP_001341652.1:n.*2173T=
NM_198156.3:c.*1977T= NP_937799.1:n.*1977T=