Canonical Allele Identifier: CA1345063479
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10150284A= , CM000665.2:g.10150284A= GRCh38
NC_000003.11:g.10191968A= , CM000665.1:g.10191968A= GRCh37
NC_000003.10:g.10166968A= NCBI36
NG_008212.3:g.13650A= , LRG_322:g.13650A=

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.*319A= MANE Select ENSP00000256474.3:p.=
ENST00000256474.2:c.*319A= ENSP00000256474.2:p.=
ENST00000345392.2:c.*319A= ENSP00000344757.2:p.=
NM_000551.3:c.*319A= , LRG_322t1:c.*319A= NP_000542.1:p.=
NM_198156.2:c.*319A= NP_937799.1:p.=
NM_001354723.1:c.*515A= NP_001341652.1:p.=
NM_000551.4:c.*319A= MANE Select NP_000542.1:p.=
NM_001354723.2:c.*515A= NP_001341652.1:p.=
NM_198156.3:c.*319A= NP_937799.1:p.=