Canonical Allele Identifier: CA432423817

Gene: VHL

Linked Data

• ClinVar Variation Id: 1692526
• ClinVar RCV Id: RCV002257242 ; RCV003774776
• dbSNP Id: rs1187217673
• COSMIC: COSM18089
• MyVariant Identifiers: chr3:g.10191599C>T (hg19) ; chr3:g.10149915C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149915C>T , CM000665.2:g.10149915C>T	GRCh38
NC_000003.11:g.10191599C>T , CM000665.1:g.10191599C>T	GRCh37
NC_000003.10:g.10166599C>T	NCBI36
NG_008212.3:g.13281C>T , LRG_322:g.13281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*269C>T	ENSP00000512434.1:n.*269C>T
ENST00000696143.1:c.728C>T	ENSP00000512435.1:n.728C>T
ENST00000696153.1:c.703C>T	ENSP00000512444.1:p.Leu235=
ENST00000256474.3:c.592C>T MANE Select	ENSP00000256474.3:p.Leu198=
ENST00000256474.2:c.592C>T	ENSP00000256474.2:p.Leu198=
ENST00000345392.2:c.469C>T	ENSP00000344757.2:p.Leu157=
ENST00000477538.1:n.728C>T
NM_000551.3:c.592C>T , LRG_322t1:c.592C>T	NP_000542.1:p.Leu198=
NM_198156.2:c.469C>T	NP_937799.1:p.Leu157=
NM_001354723.1:c.*146C>T	NP_001341652.1:n.*146C>T
NM_000551.4:c.592C>T MANE Select	NP_000542.1:p.Leu198=
NM_001354723.2:c.*146C>T	NP_001341652.1:n.*146C>T
NM_198156.3:c.469C>T	NP_937799.1:p.Leu157=