Canonical Allele Identifier: CA1345065768
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153170C= , CM000665.2:g.10153170C= GRCh38
NC_000003.11:g.10194854C= , CM000665.1:g.10194854C= GRCh37
NC_000003.10:g.10169854C= NCBI36
NG_008212.3:g.16536C= , LRG_322:g.16536C=

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*3205C= ENSP00000512444.1:n.*3205C=
ENST00000256474.3:c.*3205C= MANE Select ENSP00000256474.3:n.*3205C=
NM_000551.3:c.*3205C= , LRG_322t1:c.*3205C= NP_000542.1:n.*3205C=
NM_198156.2:c.*3205C= NP_937799.1:n.*3205C=
NM_001354723.1:c.*3401C= NP_001341652.1:n.*3401C=
NM_000551.4:c.*3205C= MANE Select NP_000542.1:n.*3205C=
NM_001354723.2:c.*3401C= NP_001341652.1:n.*3401C=
NM_198156.3:c.*3205C= NP_937799.1:n.*3205C=