Canonical Allele Identifier: CA1345063253

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150035C= , CM000665.2:g.10150035C=	GRCh38
NC_000003.11:g.10191719C= , CM000665.1:g.10191719C=	GRCh37
NC_000003.10:g.10166719C=	NCBI36
NG_008212.3:g.13401C= , LRG_322:g.13401C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*389C=	ENSP00000512434.1:n.*389C=
ENST00000696143.1:c.848C=	ENSP00000512435.1:n.848C=
ENST00000696153.1:c.*70C=	ENSP00000512444.1:n.*70C=
ENST00000256474.3:c.*70C= MANE Select	ENSP00000256474.3:n.*70C=
ENST00000256474.2:c.*70C=	ENSP00000256474.2:n.*70C=
ENST00000345392.2:c.*70C=	ENSP00000344757.2:n.*70C=
ENST00000477538.1:n.848C=
NM_000551.3:c.*70C= , LRG_322t1:c.*70C=	NP_000542.1:n.*70C=
NM_198156.2:c.*70C=	NP_937799.1:n.*70C=
NM_001354723.1:c.*266C=	NP_001341652.1:n.*266C=
NM_000551.4:c.*70C= MANE Select	NP_000542.1:n.*70C=
NM_001354723.2:c.*266C=	NP_001341652.1:n.*266C=
NM_198156.3:c.*70C=	NP_937799.1:n.*70C=