Canonical Allele Identifier: CA432423306

Gene: VHL

Linked Data

• ClinVar Variation Id: 526695
• ClinVar RCV Id: RCV000631298
• dbSNP Id: rs1553620323
• MyVariant Identifiers: chr3:g.10191511C>T (hg19) ; chr3:g.10149827C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149827C>T , CM000665.2:g.10149827C>T	GRCh38
NC_000003.11:g.10191511C>T , CM000665.1:g.10191511C>T	GRCh37
NC_000003.10:g.10166511C>T	NCBI36
NG_008212.3:g.13193C>T , LRG_322:g.13193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*181C>T	ENSP00000512434.1:n.*181C>T
ENST00000696143.1:c.640C>T	ENSP00000512435.1:n.640C>T
ENST00000696153.1:c.615C>T	ENSP00000512444.1:p.Ser205=
ENST00000256474.3:c.504C>T MANE Select	ENSP00000256474.3:p.Ser168=
ENST00000256474.2:c.504C>T	ENSP00000256474.2:p.Ser168=
ENST00000345392.2:c.381C>T	ENSP00000344757.2:p.Ser127=
ENST00000477538.1:n.640C>T
NM_000551.3:c.504C>T , LRG_322t1:c.504C>T	NP_000542.1:p.Ser168=
NM_198156.2:c.381C>T	NP_937799.1:p.Ser127=
NM_001354723.1:c.*58C>T	NP_001341652.1:n.*58C>T
NM_000551.4:c.504C>T MANE Select	NP_000542.1:p.Ser168=
NM_001354723.2:c.*58C>T	NP_001341652.1:n.*58C>T
NM_198156.3:c.381C>T	NP_937799.1:p.Ser127=