Canonical Allele Identifier: CA1345065193

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152387C= , CM000665.2:g.10152387C=	GRCh38
NC_000003.11:g.10194071C= , CM000665.1:g.10194071C=	GRCh37
NC_000003.10:g.10169071C=	NCBI36
NG_008212.3:g.15753C= , LRG_322:g.15753C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2422C=	ENSP00000512444.1:n.*2422C=
ENST00000256474.3:c.*2422C= MANE Select	ENSP00000256474.3:n.*2422C=
NM_000551.3:c.*2422C= , LRG_322t1:c.*2422C=	NP_000542.1:n.*2422C=
NM_198156.2:c.*2422C=	NP_937799.1:n.*2422C=
NM_001354723.1:c.*2618C=	NP_001341652.1:n.*2618C=
NM_000551.4:c.*2422C= MANE Select	NP_000542.1:n.*2422C=
NM_001354723.2:c.*2618C=	NP_001341652.1:n.*2618C=
NM_198156.3:c.*2422C=	NP_937799.1:n.*2422C=