Canonical Allele Identifier: CA351756034

Gene: VHL

Linked Data

• ClinVar Variation Id: 1712100
• ClinVar RCV Id: RCV002293818 ; RCV004047631
• dbSNP Id: rs2125130449
• gnomAD v4: 3-10149787-T-C
• MyVariant Identifiers: chr3:g.10191471T>C (hg19) ; chr3:g.10149787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149787T>C , CM000665.2:g.10149787T>C	GRCh38
NC_000003.11:g.10191471T>C , CM000665.1:g.10191471T>C	GRCh37
NC_000003.10:g.10166471T>C	NCBI36
NG_008212.3:g.13153T>C , LRG_322:g.13153T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141T>C	ENSP00000512434.1:n.*141T>C
ENST00000696143.1:c.600T>C	ENSP00000512435.1:n.600T>C
ENST00000696153.1:c.575T>C	ENSP00000512444.1:p.Val192Ala
ENST00000256474.3:c.464T>C MANE Select	ENSP00000256474.3:p.Val155Ala
ENST00000256474.2:c.464T>C	ENSP00000256474.2:p.Val155Ala
ENST00000345392.2:c.341T>C	ENSP00000344757.2:p.Val114Ala
ENST00000477538.1:n.600T>C
NM_000551.3:c.464T>C , LRG_322t1:c.464T>C	NP_000542.1:p.Val155Ala
NM_198156.2:c.341T>C	NP_937799.1:p.Val114Ala
NM_001354723.1:c.*18T>C	NP_001341652.1:n.*18T>C
NM_000551.4:c.464T>C MANE Select	NP_000542.1:p.Val155Ala
NM_001354723.2:c.*18T>C	NP_001341652.1:n.*18T>C
NM_198156.3:c.341T>C	NP_937799.1:p.Val114Ala