Canonical Allele Identifier: CA16611070

Gene: VHL

Linked Data

• ClinVar Variation Id: 416988
• ClinVar RCV Id: RCV000476563
• dbSNP Id: rs1060503558
• MyVariant Identifiers: chr3:g.10191586T>C (hg19) ; chr3:g.10149902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149902T>C , CM000665.2:g.10149902T>C	GRCh38
NC_000003.11:g.10191586T>C , CM000665.1:g.10191586T>C	GRCh37
NC_000003.10:g.10166586T>C	NCBI36
NG_008212.3:g.13268T>C , LRG_322:g.13268T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*256T>C	ENSP00000512434.1:n.*256T>C
ENST00000696143.1:c.715T>C	ENSP00000512435.1:n.715T>C
ENST00000696153.1:c.690T>C	ENSP00000512444.1:p.Asn230=
ENST00000256474.3:c.579T>C MANE Select	ENSP00000256474.3:p.Asn193=
ENST00000256474.2:c.579T>C	ENSP00000256474.2:p.Asn193=
ENST00000345392.2:c.456T>C	ENSP00000344757.2:p.Asn152=
ENST00000477538.1:n.715T>C
NM_000551.3:c.579T>C , LRG_322t1:c.579T>C	NP_000542.1:p.Asn193=
NM_198156.2:c.456T>C	NP_937799.1:p.Asn152=
NM_001354723.1:c.*133T>C	NP_001341652.1:n.*133T>C
NM_000551.4:c.579T>C MANE Select	NP_000542.1:p.Asn193=
NM_001354723.2:c.*133T>C	NP_001341652.1:n.*133T>C
NM_198156.3:c.456T>C	NP_937799.1:p.Asn152=