Canonical Allele Identifier: CA041863

Gene: VHL

Linked Data

• ClinVar Variation Id: 411984
• ClinVar RCV Id: RCV000467837
• dbSNP Id: rs779514074
• ExAC: 3:10191612 C / T
• gnomAD v2: 3-10191612-C-T
• gnomAD v4: 3-10149928-C-T
• MyVariant Identifiers: chr3:g.10191612C>T (hg19) ; chr3:g.10149928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149928C>T , CM000665.2:g.10149928C>T	GRCh38
NC_000003.11:g.10191612C>T , CM000665.1:g.10191612C>T	GRCh37
NC_000003.10:g.10166612C>T	NCBI36
NG_008212.3:g.13294C>T , LRG_322:g.13294C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*282C>T	ENSP00000512434.1:n.*282C>T
ENST00000696143.1:c.741C>T	ENSP00000512435.1:n.741C>T
ENST00000696153.1:c.716C>T	ENSP00000512444.1:p.Thr239Ile
ENST00000256474.3:c.605C>T MANE Select	ENSP00000256474.3:p.Thr202Ile
ENST00000256474.2:c.605C>T	ENSP00000256474.2:p.Thr202Ile
ENST00000345392.2:c.482C>T	ENSP00000344757.2:p.Thr161Ile
ENST00000477538.1:n.741C>T
NM_000551.3:c.605C>T , LRG_322t1:c.605C>T	NP_000542.1:p.Thr202Ile
NM_198156.2:c.482C>T	NP_937799.1:p.Thr161Ile
NM_001354723.1:c.*159C>T	NP_001341652.1:n.*159C>T
NM_000551.4:c.605C>T MANE Select	NP_000542.1:p.Thr202Ile
NM_001354723.2:c.*159C>T	NP_001341652.1:n.*159C>T
NM_198156.3:c.482C>T	NP_937799.1:p.Thr161Ile