Canonical Allele Identifier: CA432423109

Gene: VHL

Linked Data

• ClinVar Variation Id: 795295
• ClinVar RCV Id: RCV000978611 ; RCV002327201
• dbSNP Id: rs1575932005
• MyVariant Identifiers: chr3:g.10191481G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149797G>T , CM000665.2:g.10149797G>T	GRCh38
NC_000003.11:g.10191481G>T , CM000665.1:g.10191481G>T	GRCh37
NC_000003.10:g.10166481G>T	NCBI36
NG_008212.3:g.13163G>T , LRG_322:g.13163G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*151G>T	ENSP00000512434.1:n.*151G>T
ENST00000696143.1:c.610G>T	ENSP00000512435.1:n.610G>T
ENST00000696153.1:c.585G>T	ENSP00000512444.1:p.Leu195=
ENST00000256474.3:c.474G>T MANE Select	ENSP00000256474.3:p.Leu158=
ENST00000256474.2:c.474G>T	ENSP00000256474.2:p.Leu158=
ENST00000345392.2:c.351G>T	ENSP00000344757.2:p.Leu117=
ENST00000477538.1:n.610G>T
NM_000551.3:c.474G>T , LRG_322t1:c.474G>T	NP_000542.1:p.Leu158=
NM_198156.2:c.351G>T	NP_937799.1:p.Leu117=
NM_001354723.1:c.*28G>T	NP_001341652.1:n.*28G>T
NM_000551.4:c.474G>T MANE Select	NP_000542.1:p.Leu158=
NM_001354723.2:c.*28G>T	NP_001341652.1:n.*28G>T
NM_198156.3:c.351G>T	NP_937799.1:p.Leu117=