Canonical Allele Identifier: CA1345065581
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152908C= , CM000665.2:g.10152908C= GRCh38
NC_000003.11:g.10194592C= , CM000665.1:g.10194592C= GRCh37
NC_000003.10:g.10169592C= NCBI36
NG_008212.3:g.16274C= , LRG_322:g.16274C=

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2943C= ENSP00000512444.1:n.*2943C=
ENST00000256474.3:c.*2943C= MANE Select ENSP00000256474.3:n.*2943C=
NM_000551.3:c.*2943C= , LRG_322t1:c.*2943C= NP_000542.1:n.*2943C=
NM_198156.2:c.*2943C= NP_937799.1:n.*2943C=
NM_001354723.1:c.*3139C= NP_001341652.1:n.*3139C=
NM_000551.4:c.*2943C= MANE Select NP_000542.1:n.*2943C=
NM_001354723.2:c.*3139C= NP_001341652.1:n.*3139C=
NM_198156.3:c.*2943C= NP_937799.1:n.*2943C=