Canonical Allele Identifier: CA351756230

Gene: VHL

Linked Data

• ClinVar Variation Id: 825586
• ClinVar RCV Id: RCV001023797 ; RCV001359453 ; RCV001536627
• dbSNP Id: rs193922613
• MyVariant Identifiers: chr3:g.10191531A>T (hg19) ; chr3:g.10149847A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149847A>T , CM000665.2:g.10149847A>T	GRCh38
NC_000003.11:g.10191531A>T , CM000665.1:g.10191531A>T	GRCh37
NC_000003.10:g.10166531A>T	NCBI36
NG_008212.3:g.13213A>T , LRG_322:g.13213A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*201A>T	ENSP00000512434.1:n.*201A>T
ENST00000696143.1:c.660A>T	ENSP00000512435.1:n.660A>T
ENST00000696153.1:c.635A>T	ENSP00000512444.1:p.Tyr212Phe
ENST00000256474.3:c.524A>T MANE Select	ENSP00000256474.3:p.Tyr175Phe
ENST00000256474.2:c.524A>T	ENSP00000256474.2:p.Tyr175Phe
ENST00000345392.2:c.401A>T	ENSP00000344757.2:p.Tyr134Phe
ENST00000477538.1:n.660A>T
NM_000551.3:c.524A>T , LRG_322t1:c.524A>T	NP_000542.1:p.Tyr175Phe
NM_198156.2:c.401A>T	NP_937799.1:p.Tyr134Phe
NM_001354723.1:c.*78A>T	NP_001341652.1:n.*78A>T
NM_000551.4:c.524A>T MANE Select	NP_000542.1:p.Tyr175Phe
NM_001354723.2:c.*78A>T	NP_001341652.1:n.*78A>T
NM_198156.3:c.401A>T	NP_937799.1:p.Tyr134Phe