Canonical Allele Identifier: CA1345064238
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10151040T= , CM000665.2:g.10151040T= GRCh38
NC_000003.11:g.10192724T= , CM000665.1:g.10192724T= GRCh37
NC_000003.10:g.10167724T= NCBI36
NG_008212.3:g.14406T= , LRG_322:g.14406T=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*1394T= ENSP00000512434.1:n.*1394T=
ENST00000696143.1:c.1853T= ENSP00000512435.1:n.1853T=
ENST00000696153.1:c.*1075T= ENSP00000512444.1:n.*1075T=
ENST00000256474.3:c.*1075T= MANE Select ENSP00000256474.3:n.*1075T=
ENST00000256474.2:c.*1075T= ENSP00000256474.2:n.*1075T=
ENST00000345392.2:c.*1075T= ENSP00000344757.2:n.*1075T=
NM_000551.3:c.*1075T= , LRG_322t1:c.*1075T= NP_000542.1:n.*1075T=
NM_198156.2:c.*1075T= NP_937799.1:n.*1075T=
NM_001354723.1:c.*1271T= NP_001341652.1:n.*1271T=
NM_000551.4:c.*1075T= MANE Select NP_000542.1:n.*1075T=
NM_001354723.2:c.*1271T= NP_001341652.1:n.*1271T=
NM_198156.3:c.*1075T= NP_937799.1:n.*1075T=