Canonical Allele Identifier: CA351756080

Gene: VHL

Linked Data

• ClinVar Variation Id: 1451803
• ClinVar RCV Id: RCV002007406 ; RCV003329425
• dbSNP Id: rs1575932011
• COSMIC: COSM422840
• MyVariant Identifiers: chr3:g.10191482A>T (hg19) ; chr3:g.10149798A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149798A>T , CM000665.2:g.10149798A>T	GRCh38
NC_000003.11:g.10191482A>T , CM000665.1:g.10191482A>T	GRCh37
NC_000003.10:g.10166482A>T	NCBI36
NG_008212.3:g.13164A>T , LRG_322:g.13164A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*152A>T	ENSP00000512434.1:n.*152A>T
ENST00000696143.1:c.611A>T	ENSP00000512435.1:n.611A>T
ENST00000696153.1:c.586A>T	ENSP00000512444.1:p.Lys196Ter
ENST00000256474.3:c.475A>T MANE Select	ENSP00000256474.3:p.Lys159Ter
ENST00000256474.2:c.475A>T	ENSP00000256474.2:p.Lys159Ter
ENST00000345392.2:c.352A>T	ENSP00000344757.2:p.Lys118Ter
ENST00000477538.1:n.611A>T
NM_000551.3:c.475A>T , LRG_322t1:c.475A>T	NP_000542.1:p.Lys159Ter
NM_198156.2:c.352A>T	NP_937799.1:p.Lys118Ter
NM_001354723.1:c.*29A>T	NP_001341652.1:n.*29A>T
NM_000551.4:c.475A>T MANE Select	NP_000542.1:p.Lys159Ter
NM_001354723.2:c.*29A>T	NP_001341652.1:n.*29A>T
NM_198156.3:c.352A>T	NP_937799.1:p.Lys118Ter