Canonical Allele Identifier: CA1345065439
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152690C= , CM000665.2:g.10152690C= GRCh38
NC_000003.11:g.10194374C= , CM000665.1:g.10194374C= GRCh37
NC_000003.10:g.10169374C= NCBI36
NG_008212.3:g.16056C= , LRG_322:g.16056C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2725C= ENSP00000512444.1:n.*2725C=
ENST00000256474.3:c.*2725C= MANE Select ENSP00000256474.3:n.*2725C=
NM_000551.3:c.*2725C= , LRG_322t1:c.*2725C= NP_000542.1:n.*2725C=
NM_198156.2:c.*2725C= NP_937799.1:n.*2725C=
NM_001354723.1:c.*2921C= NP_001341652.1:n.*2921C=
NM_000551.4:c.*2725C= MANE Select NP_000542.1:n.*2725C=
NM_001354723.2:c.*2921C= NP_001341652.1:n.*2921C=
NM_198156.3:c.*2725C= NP_937799.1:n.*2725C=