Canonical Allele Identifier: CA351756233

Gene: VHL

Linked Data

• COSMIC: COSM18072
• MyVariant Identifiers: chr3:g.10191533A>T (hg19) ; chr3:g.10149849A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149849A>T , CM000665.2:g.10149849A>T	GRCh38
NC_000003.11:g.10191533A>T , CM000665.1:g.10191533A>T	GRCh37
NC_000003.10:g.10166533A>T	NCBI36
NG_008212.3:g.13215A>T , LRG_322:g.13215A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*203A>T	ENSP00000512434.1:n.*203A>T
ENST00000696143.1:c.662A>T	ENSP00000512435.1:n.662A>T
ENST00000696153.1:c.637A>T	ENSP00000512444.1:p.Arg213Trp
ENST00000256474.3:c.526A>T MANE Select	ENSP00000256474.3:p.Arg176Trp
ENST00000256474.2:c.526A>T	ENSP00000256474.2:p.Arg176Trp
ENST00000345392.2:c.403A>T	ENSP00000344757.2:p.Arg135Trp
ENST00000477538.1:n.662A>T
NM_000551.3:c.526A>T , LRG_322t1:c.526A>T	NP_000542.1:p.Arg176Trp
NM_198156.2:c.403A>T	NP_937799.1:p.Arg135Trp
NM_001354723.1:c.*80A>T	NP_001341652.1:n.*80A>T
NM_000551.4:c.526A>T MANE Select	NP_000542.1:p.Arg176Trp
NM_001354723.2:c.*80A>T	NP_001341652.1:n.*80A>T
NM_198156.3:c.403A>T	NP_937799.1:p.Arg135Trp