Canonical Allele Identifier: CA1345065484
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152754T= , CM000665.2:g.10152754T= GRCh38
NC_000003.11:g.10194438T= , CM000665.1:g.10194438T= GRCh37
NC_000003.10:g.10169438T= NCBI36
NG_008212.3:g.16120T= , LRG_322:g.16120T=

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2789T= ENSP00000512444.1:n.*2789T=
ENST00000256474.3:c.*2789T= MANE Select ENSP00000256474.3:n.*2789T=
NM_000551.3:c.*2789T= , LRG_322t1:c.*2789T= NP_000542.1:n.*2789T=
NM_198156.2:c.*2789T= NP_937799.1:n.*2789T=
NM_001354723.1:c.*2985T= NP_001341652.1:n.*2985T=
NM_000551.4:c.*2789T= MANE Select NP_000542.1:n.*2789T=
NM_001354723.2:c.*2985T= NP_001341652.1:n.*2985T=
NM_198156.3:c.*2789T= NP_937799.1:n.*2789T=