Canonical Allele Identifier: CA1345064235
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10151039C= , CM000665.2:g.10151039C= GRCh38
NC_000003.11:g.10192723C= , CM000665.1:g.10192723C= GRCh37
NC_000003.10:g.10167723C= NCBI36
NG_008212.3:g.14405C= , LRG_322:g.14405C=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*1393C= ENSP00000512434.1:n.*1393C=
ENST00000696143.1:c.1852C= ENSP00000512435.1:n.1852C=
ENST00000696153.1:c.*1074C= ENSP00000512444.1:n.*1074C=
ENST00000256474.3:c.*1074C= MANE Select ENSP00000256474.3:n.*1074C=
ENST00000256474.2:c.*1074C= ENSP00000256474.2:n.*1074C=
ENST00000345392.2:c.*1074C= ENSP00000344757.2:n.*1074C=
NM_000551.3:c.*1074C= , LRG_322t1:c.*1074C= NP_000542.1:n.*1074C=
NM_198156.2:c.*1074C= NP_937799.1:n.*1074C=
NM_001354723.1:c.*1270C= NP_001341652.1:n.*1270C=
NM_000551.4:c.*1074C= MANE Select NP_000542.1:n.*1074C=
NM_001354723.2:c.*1270C= NP_001341652.1:n.*1270C=
NM_198156.3:c.*1074C= NP_937799.1:n.*1074C=