Canonical Allele Identifier: CA041716

Gene: VHL

Linked Data

• ClinVar Variation Id: 2943258
• ClinVar RCV Id: RCV003800376 ; RCV004006057
• dbSNP Id: rs759418244
• ExAC: 3:10191580 C / T
• gnomAD v2: 3-10191580-C-T
• gnomAD v4: 3-10149896-C-T
• MyVariant Identifiers: chr3:g.10191580C>T (hg19) ; chr3:g.10149896C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149896C>T , CM000665.2:g.10149896C>T	GRCh38
NC_000003.11:g.10191580C>T , CM000665.1:g.10191580C>T	GRCh37
NC_000003.10:g.10166580C>T	NCBI36
NG_008212.3:g.13262C>T , LRG_322:g.13262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*250C>T	ENSP00000512434.1:n.*250C>T
ENST00000696143.1:c.709C>T	ENSP00000512435.1:n.709C>T
ENST00000696153.1:c.684C>T	ENSP00000512444.1:p.His228=
ENST00000256474.3:c.573C>T MANE Select	ENSP00000256474.3:p.His191=
ENST00000256474.2:c.573C>T	ENSP00000256474.2:p.His191=
ENST00000345392.2:c.450C>T	ENSP00000344757.2:p.His150=
ENST00000477538.1:n.709C>T
NM_000551.3:c.573C>T , LRG_322t1:c.573C>T	NP_000542.1:p.His191=
NM_198156.2:c.450C>T	NP_937799.1:p.His150=
NM_001354723.1:c.*127C>T	NP_001341652.1:n.*127C>T
NM_000551.4:c.573C>T MANE Select	NP_000542.1:p.His191=
NM_001354723.2:c.*127C>T	NP_001341652.1:n.*127C>T
NM_198156.3:c.450C>T	NP_937799.1:p.His150=