Canonical Allele Identifier: CA1345067718
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10143084T= , CM000665.2:g.10143084T= GRCh38
NC_000003.11:g.10184768T= , CM000665.1:g.10184768T= GRCh37
NC_000003.10:g.10159768T= NCBI36
NG_008212.3:g.6450T= , LRG_322:g.6450T=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*17+63T= ENSP00000512434.1:n.*17+63T=
ENST00000696143.1:c.599+63T= ENSP00000512435.1:n.599+63T=
ENST00000696153.1:c.340+897T= ENSP00000512444.1:n.340+897T=
ENST00000256474.3:c.340+897T= MANE Select ENSP00000256474.3:n.340+897T=
ENST00000256474.2:c.340+897T= ENSP00000256474.2:n.340+897T=
ENST00000345392.2:c.340+897T= ENSP00000344757.2:n.340+897T=
ENST00000477538.1:n.476+63T=
NM_000551.3:c.340+897T= , LRG_322t1:c.340+897T= NP_000542.1:n.340+897T=
NM_198156.2:c.340+897T= NP_937799.1:n.340+897T=
XM_011534078.1:c.*17+63T= XP_011532380.1:n.*17+63T=
NM_001354723.1:c.*17+63T= NP_001341652.1:n.*17+63T=
NM_000551.4:c.340+897T= MANE Select NP_000542.1:n.340+897T=
NM_001354723.2:c.*17+63T= NP_001341652.1:n.*17+63T=
NM_198156.3:c.340+897T= NP_937799.1:n.340+897T=