Canonical Allele Identifier: CA70052897

Gene: VHL

Linked Data

• ClinVar Variation Id: 902228
• ClinVar RCV Id: RCV001148640
• dbSNP Id: rs138178021
• gnomAD v2: 3-10192040-C-T
• gnomAD v3: 3-10150356-C-T
• gnomAD v4: 3-10150356-C-T
• MyVariant Identifiers: chr3:g.10192040C>T (hg19) ; chr3:g.10150356C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150356C>T , CM000665.2:g.10150356C>T	GRCh38
NC_000003.11:g.10192040C>T , CM000665.1:g.10192040C>T	GRCh37
NC_000003.10:g.10167040C>T	NCBI36
NG_008212.3:g.13722C>T , LRG_322:g.13722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*710C>T	ENSP00000512434.1:n.*710C>T
ENST00000696143.1:c.1169C>T	ENSP00000512435.1:n.1169C>T
ENST00000696153.1:c.*391C>T	ENSP00000512444.1:n.*391C>T
ENST00000256474.3:c.*391C>T MANE Select	ENSP00000256474.3:n.*391C>T
ENST00000256474.2:c.*391C>T	ENSP00000256474.2:n.*391C>T
ENST00000345392.2:c.*391C>T	ENSP00000344757.2:n.*391C>T
NM_000551.3:c.*391C>T , LRG_322t1:c.*391C>T	NP_000542.1:n.*391C>T
NM_198156.2:c.*391C>T	NP_937799.1:n.*391C>T
NM_001354723.1:c.*587C>T	NP_001341652.1:n.*587C>T
NM_000551.4:c.*391C>T MANE Select	NP_000542.1:n.*391C>T
NM_001354723.2:c.*587C>T	NP_001341652.1:n.*587C>T
NM_198156.3:c.*391C>T	NP_937799.1:n.*391C>T