Canonical Allele Identifier: CA351756393
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149883A>G , CM000665.2:g.10149883A>G GRCh38
NC_000003.11:g.10191567A>G , CM000665.1:g.10191567A>G GRCh37
NC_000003.10:g.10166567A>G NCBI36
NG_008212.3:g.13249A>G , LRG_322:g.13249A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*237A>G ENSP00000512434.1:n.*237A>G
ENST00000696143.1:c.696A>G ENSP00000512435.1:n.696A>G
ENST00000696153.1:c.671A>G ENSP00000512444.1:p.Asp224Gly
ENST00000256474.3:c.560A>G MANE Select ENSP00000256474.3:p.Asp187Gly
ENST00000256474.2:c.560A>G ENSP00000256474.2:p.Asp187Gly
ENST00000345392.2:c.437A>G ENSP00000344757.2:p.Asp146Gly
ENST00000477538.1:n.696A>G
NM_000551.3:c.560A>G , LRG_322t1:c.560A>G NP_000542.1:p.Asp187Gly
NM_198156.2:c.437A>G NP_937799.1:p.Asp146Gly
NM_001354723.1:c.*114A>G NP_001341652.1:n.*114A>G
NM_000551.4:c.560A>G MANE Select NP_000542.1:p.Asp187Gly
NM_001354723.2:c.*114A>G NP_001341652.1:n.*114A>G
NM_198156.3:c.437A>G NP_937799.1:p.Asp146Gly