Canonical Allele Identifier: CA1345064935
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152005G= , CM000665.2:g.10152005G= GRCh38
NC_000003.11:g.10193689G= , CM000665.1:g.10193689G= GRCh37
NC_000003.10:g.10168689G= NCBI36
NG_008212.3:g.15371G= , LRG_322:g.15371G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696143.1:c.2818G= ENSP00000512435.1:n.2818G=
ENST00000696153.1:c.*2040G= ENSP00000512444.1:n.*2040G=
ENST00000256474.3:c.*2040G= MANE Select ENSP00000256474.3:n.*2040G=
ENST00000256474.2:c.*2040G= ENSP00000256474.2:n.*2040G=
ENST00000345392.2:c.*2040G= ENSP00000344757.2:n.*2040G=
NM_000551.3:c.*2040G= , LRG_322t1:c.*2040G= NP_000542.1:n.*2040G=
NM_198156.2:c.*2040G= NP_937799.1:n.*2040G=
NM_001354723.1:c.*2236G= NP_001341652.1:n.*2236G=
NM_000551.4:c.*2040G= MANE Select NP_000542.1:n.*2040G=
NM_001354723.2:c.*2236G= NP_001341652.1:n.*2236G=
NM_198156.3:c.*2040G= NP_937799.1:n.*2040G=