Canonical Allele Identifier: CA1345062124
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149786G= , CM000665.2:g.10149786G= GRCh38
NC_000003.11:g.10191470G= , CM000665.1:g.10191470G= GRCh37
NC_000003.10:g.10166470G= NCBI36
NG_008212.3:g.13152G= , LRG_322:g.13152G=

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*141-1G= ENSP00000512434.1:n.*141-1G=
ENST00000696143.1:c.600-1G= ENSP00000512435.1:n.600-1G=
ENST00000696153.1:c.575-1G= ENSP00000512444.1:n.575-1G=
ENST00000256474.3:c.464-1G= MANE Select ENSP00000256474.3:n.464-1G=
ENST00000256474.2:c.464-1G= ENSP00000256474.2:n.464-1G=
ENST00000345392.2:c.341-1G= ENSP00000344757.2:n.341-1G=
ENST00000477538.1:n.600-1G=
NM_000551.3:c.464-1G= , LRG_322t1:c.464-1G= NP_000542.1:n.464-1G=
NM_198156.2:c.341-1G= NP_937799.1:n.341-1G=
NM_001354723.1:c.*18-1G= NP_001341652.1:n.*18-1G=
NM_000551.4:c.464-1G= MANE Select NP_000542.1:n.464-1G=
NM_001354723.2:c.*18-1G= NP_001341652.1:n.*18-1G=
NM_198156.3:c.341-1G= NP_937799.1:n.341-1G=