Canonical Allele Identifier: CA16611251

Gene: VHL

Linked Data

• ClinVar Variation Id: 416992
• ClinVar RCV Id: RCV000472149
• dbSNP Id: rs1017141110
• gnomAD v2: 3-10183558-C-T
• gnomAD v4: 3-10141874-C-T
• MyVariant Identifiers: chr3:g.10183558C>T (hg19) ; chr3:g.10141874C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141874C>T , CM000665.2:g.10141874C>T	GRCh38
NC_000003.11:g.10183558C>T , CM000665.1:g.10183558C>T	GRCh37
NC_000003.10:g.10158558C>T	NCBI36
NG_008212.3:g.5240C>T , LRG_322:g.5240C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.27C>T	ENSP00000512434.1:p.Asp9=
ENST00000696143.1:c.27C>T	ENSP00000512435.1:p.Asp9=
ENST00000696153.1:c.27C>T	ENSP00000512444.1:p.Asp9=
ENST00000256474.3:c.27C>T MANE Select	ENSP00000256474.3:p.Asp9=
ENST00000256474.2:c.27C>T	ENSP00000256474.2:p.Asp9=
ENST00000345392.2:c.27C>T	ENSP00000344757.2:p.Asp9=
NM_000551.3:c.27C>T , LRG_322t1:c.27C>T	NP_000542.1:p.Asp9=
NM_198156.2:c.27C>T	NP_937799.1:p.Asp9=
XM_011534078.1:c.27C>T	XP_011532380.1:p.Asp9=
NM_001354723.1:c.27C>T	NP_001341652.1:p.Asp9=
NM_000551.4:c.27C>T MANE Select	NP_000542.1:p.Asp9=
NM_001354723.2:c.27C>T	NP_001341652.1:p.Asp9=
NM_198156.3:c.27C>T	NP_937799.1:p.Asp9=