Canonical Allele Identifier: CA040315

Gene: VHL

Linked Data

• ClinVar Variation Id: 378853
• ClinVar RCV Id: RCV001719994 ; RCV002061569 ; RCV004022301
• dbSNP Id: rs751232153
• ExAC: 3:10183867 C / T
• gnomAD v2: 3-10183867-C-T
• gnomAD v3: 3-10142183-C-T
• gnomAD v4: 3-10142183-C-T
• COSMIC: COSM2153368
• MyVariant Identifiers: chr3:g.10183867C>T (hg19) ; chr3:g.10142183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142183C>T , CM000665.2:g.10142183C>T	GRCh38
NC_000003.11:g.10183867C>T , CM000665.1:g.10183867C>T	GRCh37
NC_000003.10:g.10158867C>T	NCBI36
NG_008212.3:g.5549C>T , LRG_322:g.5549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.336C>T	ENSP00000512434.1:p.Tyr112=
ENST00000696143.1:c.336C>T	ENSP00000512435.1:p.Tyr112=
ENST00000696153.1:c.336C>T	ENSP00000512444.1:p.Tyr112=
ENST00000256474.3:c.336C>T MANE Select	ENSP00000256474.3:p.Tyr112=
ENST00000256474.2:c.336C>T	ENSP00000256474.2:p.Tyr112=
ENST00000345392.2:c.336C>T	ENSP00000344757.2:p.Tyr112=
NM_000551.3:c.336C>T , LRG_322t1:c.336C>T	NP_000542.1:p.Tyr112=
NM_198156.2:c.336C>T	NP_937799.1:p.Tyr112=
XM_011534078.1:c.336C>T	XP_011532380.1:p.Tyr112=
NM_001354723.1:c.336C>T	NP_001341652.1:p.Tyr112=
NM_000551.4:c.336C>T MANE Select	NP_000542.1:p.Tyr112=
NM_001354723.2:c.336C>T	NP_001341652.1:p.Tyr112=
NM_198156.3:c.336C>T	NP_937799.1:p.Tyr112=