Canonical Allele Identifier: CA10614384

Gene: VHL

Linked Data

• ClinVar Variation Id: 342400
• ClinVar RCV Id: RCV000330011 ; RCV000679013 ; RCV002256218 ; RCV002057820 ; RCV003892005
• dbSNP Id: rs772944298
• gnomAD v2: 3-10183468-C-T
• gnomAD v3: 3-10141784-C-T
• gnomAD v4: 3-10141784-C-T
• COSMIC: COSN2535324
• MyVariant Identifiers: chr3:g.10183468C>T (hg19) ; chr3:g.10141784C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141784C>T , CM000665.2:g.10141784C>T	GRCh38
NC_000003.11:g.10183468C>T , CM000665.1:g.10183468C>T	GRCh37
NC_000003.10:g.10158468C>T	NCBI36
NG_008212.3:g.5150C>T , LRG_322:g.5150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.-64C>T	ENSP00000512444.1:n.-64C>T
ENST00000256474.3:c.-64C>T MANE Select	ENSP00000256474.3:n.-64C>T
ENST00000256474.2:c.-64C>T	ENSP00000256474.2:n.-64C>T
NM_000551.3:c.-64C>T , LRG_322t1:c.-64C>T	NP_000542.1:n.-64C>T
NM_198156.2:c.-64C>T	NP_937799.1:n.-64C>T
XM_011534078.1:c.-64C>T	XP_011532380.1:n.-64C>T
NM_001354723.1:c.-64C>T	NP_001341652.1:n.-64C>T
NM_000551.4:c.-64C>T MANE Select	NP_000542.1:n.-64C>T
NM_001354723.2:c.-64C>T	NP_001341652.1:n.-64C>T
NM_198156.3:c.-64C>T	NP_937799.1:n.-64C>T