Canonical Allele Identifier: CA039351

Gene: VHL

Linked Data

• ClinVar Variation Id: 220918
• ClinVar RCV Id: RCV000204195 ; RCV000412359 ; RCV000575638 ; RCV001711983 ; RCV003977572
• dbSNP Id: rs417164
• ExAC: 3:10183645 C / T
• gnomAD v2: 3-10183645-C-T
• gnomAD v3: 3-10141961-C-T
• gnomAD v4: 3-10141961-C-T
• COSMIC: COSM18380
• MyVariant Identifiers: chr3:g.10183645C>T (hg19) ; chr3:g.10141961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141961C>T , CM000665.2:g.10141961C>T	GRCh38
NC_000003.11:g.10183645C>T , CM000665.1:g.10183645C>T	GRCh37
NC_000003.10:g.10158645C>T	NCBI36
NG_008212.3:g.5327C>T , LRG_322:g.5327C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.114C>T	ENSP00000512434.1:p.Ser38=
ENST00000696143.1:c.114C>T	ENSP00000512435.1:p.Ser38=
ENST00000696153.1:c.114C>T	ENSP00000512444.1:p.Ser38=
ENST00000256474.3:c.114C>T MANE Select	ENSP00000256474.3:p.Ser38=
ENST00000256474.2:c.114C>T	ENSP00000256474.2:p.Ser38=
ENST00000345392.2:c.114C>T	ENSP00000344757.2:p.Ser38=
NM_000551.3:c.114C>T , LRG_322t1:c.114C>T	NP_000542.1:p.Ser38=
NM_198156.2:c.114C>T	NP_937799.1:p.Ser38=
XM_011534078.1:c.114C>T	XP_011532380.1:p.Ser38=
NM_001354723.1:c.114C>T	NP_001341652.1:p.Ser38=
NM_000551.4:c.114C>T MANE Select	NP_000542.1:p.Ser38=
NM_001354723.2:c.114C>T	NP_001341652.1:p.Ser38=
NM_198156.3:c.114C>T	NP_937799.1:p.Ser38=