Canonical Allele Identifier: CA1345065482
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152752A= , CM000665.2:g.10152752A= GRCh38
NC_000003.11:g.10194436A= , CM000665.1:g.10194436A= GRCh37
NC_000003.10:g.10169436A= NCBI36
NG_008212.3:g.16118A= , LRG_322:g.16118A=

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2787A= ENSP00000512444.1:n.*2787A=
ENST00000256474.3:c.*2787A= MANE Select ENSP00000256474.3:n.*2787A=
NM_000551.3:c.*2787A= , LRG_322t1:c.*2787A= NP_000542.1:n.*2787A=
NM_198156.2:c.*2787A= NP_937799.1:n.*2787A=
NM_001354723.1:c.*2983A= NP_001341652.1:n.*2983A=
NM_000551.4:c.*2787A= MANE Select NP_000542.1:n.*2787A=
NM_001354723.2:c.*2983A= NP_001341652.1:n.*2983A=
NM_198156.3:c.*2787A= NP_937799.1:n.*2787A=