Canonical Allele Identifier: CA3057222492
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149866C= , CM000665.2:g.10149866C= GRCh38
NC_000003.11:g.10191550C= , CM000665.1:g.10191550C= GRCh37
NC_000003.10:g.10166550C= NCBI36
NG_008212.3:g.13232C= , LRG_322:g.13232C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*220C= ENSP00000512434.1:n.*220C=
ENST00000696143.1:c.679C= ENSP00000512435.1:n.679C=
ENST00000696153.1:c.654C= ENSP00000512444.1:p.Val218=
ENST00000256474.3:c.543C= MANE Select ENSP00000256474.3:p.Val181=
ENST00000256474.2:c.543C= ENSP00000256474.2:p.Val181=
ENST00000345392.2:c.420C= ENSP00000344757.2:p.Val140=
ENST00000477538.1:n.679C=
NM_000551.3:c.543C= , LRG_322t1:c.543C= NP_000542.1:p.Val181=
NM_198156.2:c.420C= NP_937799.1:p.Val140=
NM_001354723.1:c.*97C= NP_001341652.1:n.*97C=
NM_000551.4:c.543C= MANE Select NP_000542.1:p.Val181=
NM_001354723.2:c.*97C= NP_001341652.1:n.*97C=
NM_198156.3:c.420C= NP_937799.1:p.Val140=