Canonical Allele Identifier: CA16617792

Gene: VHL

Linked Data

• ClinVar Variation Id: 419447
• ClinVar RCV Id: RCV000484822 ; RCV001258069
• dbSNP Id: rs1064793878
• COSMIC: COSM17854
• MyVariant Identifiers: chr3:g.10191558T>C (hg19) ; chr3:g.10149874T>C (hg38)
• CIViC: CA16617792

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149874T>C , CM000665.2:g.10149874T>C	GRCh38
NC_000003.11:g.10191558T>C , CM000665.1:g.10191558T>C	GRCh37
NC_000003.10:g.10166558T>C	NCBI36
NG_008212.3:g.13240T>C , LRG_322:g.13240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*228T>C	ENSP00000512434.1:n.*228T>C
ENST00000696143.1:c.687T>C	ENSP00000512435.1:n.687T>C
ENST00000696153.1:c.662T>C	ENSP00000512444.1:p.Leu221Pro
ENST00000256474.3:c.551T>C MANE Select	ENSP00000256474.3:p.Leu184Pro
ENST00000256474.2:c.551T>C	ENSP00000256474.2:p.Leu184Pro
ENST00000345392.2:c.428T>C	ENSP00000344757.2:p.Leu143Pro
ENST00000477538.1:n.687T>C
NM_000551.3:c.551T>C , LRG_322t1:c.551T>C	NP_000542.1:p.Leu184Pro
NM_198156.2:c.428T>C	NP_937799.1:p.Leu143Pro
NM_001354723.1:c.*105T>C	NP_001341652.1:n.*105T>C
NM_000551.4:c.551T>C MANE Select	NP_000542.1:p.Leu184Pro
NM_001354723.2:c.*105T>C	NP_001341652.1:n.*105T>C
NM_198156.3:c.428T>C	NP_937799.1:p.Leu143Pro