Canonical Allele Identifier: CA1345063567
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150353A= , CM000665.2:g.10150353A= GRCh38
NC_000003.11:g.10192037A= , CM000665.1:g.10192037A= GRCh37
NC_000003.10:g.10167037A= NCBI36
NG_008212.3:g.13719A= , LRG_322:g.13719A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*707A= ENSP00000512434.1:n.*707A=
ENST00000696143.1:c.1166A= ENSP00000512435.1:n.1166A=
ENST00000696153.1:c.*388A= ENSP00000512444.1:n.*388A=
ENST00000256474.3:c.*388A= MANE Select ENSP00000256474.3:n.*388A=
ENST00000256474.2:c.*388A= ENSP00000256474.2:n.*388A=
ENST00000345392.2:c.*388A= ENSP00000344757.2:n.*388A=
NM_000551.3:c.*388A= , LRG_322t1:c.*388A= NP_000542.1:n.*388A=
NM_198156.2:c.*388A= NP_937799.1:n.*388A=
NM_001354723.1:c.*584A= NP_001341652.1:n.*584A=
NM_000551.4:c.*388A= MANE Select NP_000542.1:n.*388A=
NM_001354723.2:c.*584A= NP_001341652.1:n.*584A=
NM_198156.3:c.*388A= NP_937799.1:n.*388A=