Canonical Allele Identifier: CA1345063505
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150314G= , CM000665.2:g.10150314G= GRCh38
NC_000003.11:g.10191998G= , CM000665.1:g.10191998G= GRCh37
NC_000003.10:g.10166998G= NCBI36
NG_008212.3:g.13680G= , LRG_322:g.13680G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*668G= ENSP00000512434.1:n.*668G=
ENST00000696143.1:c.1127G= ENSP00000512435.1:n.1127G=
ENST00000696153.1:c.*349G= ENSP00000512444.1:n.*349G=
ENST00000256474.3:c.*349G= MANE Select ENSP00000256474.3:n.*349G=
ENST00000256474.2:c.*349G= ENSP00000256474.2:n.*349G=
ENST00000345392.2:c.*349G= ENSP00000344757.2:n.*349G=
NM_000551.3:c.*349G= , LRG_322t1:c.*349G= NP_000542.1:n.*349G=
NM_198156.2:c.*349G= NP_937799.1:n.*349G=
NM_001354723.1:c.*545G= NP_001341652.1:n.*545G=
NM_000551.4:c.*349G= MANE Select NP_000542.1:n.*349G=
NM_001354723.2:c.*545G= NP_001341652.1:n.*545G=
NM_198156.3:c.*349G= NP_937799.1:n.*349G=