Canonical Allele Identifier: CA432423247

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191502T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149818T>C , CM000665.2:g.10149818T>C	GRCh38
NC_000003.11:g.10191502T>C , CM000665.1:g.10191502T>C	GRCh37
NC_000003.10:g.10166502T>C	NCBI36
NG_008212.3:g.13184T>C , LRG_322:g.13184T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*172T>C	ENSP00000512434.1:n.*172T>C
ENST00000696143.1:c.631T>C	ENSP00000512435.1:n.631T>C
ENST00000696153.1:c.606T>C	ENSP00000512444.1:p.Val202=
ENST00000256474.3:c.495T>C MANE Select	ENSP00000256474.3:p.Val165=
ENST00000256474.2:c.495T>C	ENSP00000256474.2:p.Val165=
ENST00000345392.2:c.372T>C	ENSP00000344757.2:p.Val124=
ENST00000477538.1:n.631T>C
NM_000551.3:c.495T>C , LRG_322t1:c.495T>C	NP_000542.1:p.Val165=
NM_198156.2:c.372T>C	NP_937799.1:p.Val124=
NM_001354723.1:c.*49T>C	NP_001341652.1:n.*49T>C
NM_000551.4:c.495T>C MANE Select	NP_000542.1:p.Val165=
NM_001354723.2:c.*49T>C	NP_001341652.1:n.*49T>C
NM_198156.3:c.372T>C	NP_937799.1:p.Val124=