Canonical Allele Identifier: CA351750781

Gene: VHL

Linked Data

• ClinVar Variation Id: 496054
• ClinVar RCV Id: RCV000586256 ; RCV001853983
• dbSNP Id: rs1553619440
• MyVariant Identifiers: chr3:g.10183809G>A (hg19) ; chr3:g.10142125G>A (hg38)
• CIViC: CA351750781
• PubMed: PMID:8863170 ; PMID:8956040 ; PMID:10761708 ; PMID:11114638 ; PMID:16142346 ; PMID:16314641 ; PMID:17688370 ; PMID:17922902 ; PMID:19270817

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142125G>A , CM000665.2:g.10142125G>A	GRCh38
NC_000003.11:g.10183809G>A , CM000665.1:g.10183809G>A	GRCh37
NC_000003.10:g.10158809G>A	NCBI36
NG_008212.3:g.5491G>A , LRG_322:g.5491G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.278G>A	ENSP00000512434.1:p.Gly93Asp
ENST00000696143.1:c.278G>A	ENSP00000512435.1:p.Gly93Asp
ENST00000696153.1:c.278G>A	ENSP00000512444.1:p.Gly93Asp
ENST00000256474.3:c.278G>A MANE Select	ENSP00000256474.3:p.Gly93Asp
ENST00000256474.2:c.278G>A	ENSP00000256474.2:p.Gly93Asp
ENST00000345392.2:c.278G>A	ENSP00000344757.2:p.Gly93Asp
NM_000551.3:c.278G>A , LRG_322t1:c.278G>A	NP_000542.1:p.Gly93Asp
NM_198156.2:c.278G>A	NP_937799.1:p.Gly93Asp
XM_011534078.1:c.278G>A	XP_011532380.1:p.Gly93Asp
NM_001354723.1:c.278G>A	NP_001341652.1:p.Gly93Asp
NM_000551.4:c.278G>A MANE Select	NP_000542.1:p.Gly93Asp
NM_001354723.2:c.278G>A	NP_001341652.1:p.Gly93Asp
NM_198156.3:c.278G>A	NP_937799.1:p.Gly93Asp