Canonical Allele Identifier: CA041587

Gene: VHL

Linked Data

• ClinVar Variation Id: 1385557
• ClinVar RCV Id: RCV001905552 ; RCV003470996
• dbSNP Id: rs768390987
• ExAC: 3:10191560 T / A
• gnomAD v2: 3-10191560-T-A
• gnomAD v3: 3-10149876-T-A
• gnomAD v4: 3-10149876-T-A
• MyVariant Identifiers: chr3:g.10191560T>A (hg19) ; chr3:g.10149876T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149876T>A , CM000665.2:g.10149876T>A	GRCh38
NC_000003.11:g.10191560T>A , CM000665.1:g.10191560T>A	GRCh37
NC_000003.10:g.10166560T>A	NCBI36
NG_008212.3:g.13242T>A , LRG_322:g.13242T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*230T>A	ENSP00000512434.1:n.*230T>A
ENST00000696143.1:c.689T>A	ENSP00000512435.1:n.689T>A
ENST00000696153.1:c.664T>A	ENSP00000512444.1:p.Tyr222Asn
ENST00000256474.3:c.553T>A MANE Select	ENSP00000256474.3:p.Tyr185Asn
ENST00000256474.2:c.553T>A	ENSP00000256474.2:p.Tyr185Asn
ENST00000345392.2:c.430T>A	ENSP00000344757.2:p.Tyr144Asn
ENST00000477538.1:n.689T>A
NM_000551.3:c.553T>A , LRG_322t1:c.553T>A	NP_000542.1:p.Tyr185Asn
NM_198156.2:c.430T>A	NP_937799.1:p.Tyr144Asn
NM_001354723.1:c.*107T>A	NP_001341652.1:n.*107T>A
NM_000551.4:c.553T>A MANE Select	NP_000542.1:p.Tyr185Asn
NM_001354723.2:c.*107T>A	NP_001341652.1:n.*107T>A
NM_198156.3:c.430T>A	NP_937799.1:p.Tyr144Asn