Canonical Allele Identifier: CA1345063378
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150184G= , CM000665.2:g.10150184G= GRCh38
NC_000003.11:g.10191868G= , CM000665.1:g.10191868G= GRCh37
NC_000003.10:g.10166868G= NCBI36
NG_008212.3:g.13550G= , LRG_322:g.13550G=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*538G= ENSP00000512434.1:n.*538G=
ENST00000696143.1:c.997G= ENSP00000512435.1:n.997G=
ENST00000696153.1:c.*219G= ENSP00000512444.1:n.*219G=
ENST00000256474.3:c.*219G= MANE Select ENSP00000256474.3:n.*219G=
ENST00000256474.2:c.*219G= ENSP00000256474.2:n.*219G=
ENST00000345392.2:c.*219G= ENSP00000344757.2:n.*219G=
NM_000551.3:c.*219G= , LRG_322t1:c.*219G= NP_000542.1:n.*219G=
NM_198156.2:c.*219G= NP_937799.1:n.*219G=
NM_001354723.1:c.*415G= NP_001341652.1:n.*415G=
NM_000551.4:c.*219G= MANE Select NP_000542.1:n.*219G=
NM_001354723.2:c.*415G= NP_001341652.1:n.*415G=
NM_198156.3:c.*219G= NP_937799.1:n.*219G=