Canonical Allele Identifier: CA348201

Gene: VHL

Linked Data

• ClinVar Variation Id: 219886
• ClinVar RCV Id: RCV002345734 ; RCV003387805 ; RCV001414354 ; RCV003997587
• dbSNP Id: rs193922614
• gnomAD v4: 3-10149872-G-T
• MyVariant Identifiers: chr3:g.10191556G>T (hg19) ; chr3:g.10149872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149872G>T , CM000665.2:g.10149872G>T	GRCh38
NC_000003.11:g.10191556G>T , CM000665.1:g.10191556G>T	GRCh37
NC_000003.10:g.10166556G>T	NCBI36
NG_008212.3:g.13238G>T , LRG_322:g.13238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*226G>T	ENSP00000512434.1:n.*226G>T
ENST00000696143.1:c.685G>T	ENSP00000512435.1:n.685G>T
ENST00000696153.1:c.660G>T	ENSP00000512444.1:p.Ser220=
ENST00000256474.3:c.549G>T MANE Select	ENSP00000256474.3:p.Ser183=
ENST00000256474.2:c.549G>T	ENSP00000256474.2:p.Ser183=
ENST00000345392.2:c.426G>T	ENSP00000344757.2:p.Ser142=
ENST00000477538.1:n.685G>T
NM_000551.3:c.549G>T , LRG_322t1:c.549G>T	NP_000542.1:p.Ser183=
NM_198156.2:c.426G>T	NP_937799.1:p.Ser142=
NM_001354723.1:c.*103G>T	NP_001341652.1:n.*103G>T
NM_000551.4:c.549G>T MANE Select	NP_000542.1:p.Ser183=
NM_001354723.2:c.*103G>T	NP_001341652.1:n.*103G>T
NM_198156.3:c.426G>T	NP_937799.1:p.Ser142=