Canonical Allele Identifier: CA540877378

Gene: VHL

Linked Data

• dbSNP Id: rs1450968401
• gnomAD v2: 3-10192731-T-A
• gnomAD v3: 3-10151047-T-A
• gnomAD v4: 3-10151047-T-A
• MyVariant Identifiers: chr3:g.10192731T>A (hg19) ; chr3:g.10151047T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151047T>A , CM000665.2:g.10151047T>A	GRCh38
NC_000003.11:g.10192731T>A , CM000665.1:g.10192731T>A	GRCh37
NC_000003.10:g.10167731T>A	NCBI36
NG_008212.3:g.14413T>A , LRG_322:g.14413T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*1401T>A	ENSP00000512434.1:n.*1401T>A
ENST00000696143.1:c.1860T>A	ENSP00000512435.1:n.1860T>A
ENST00000696153.1:c.*1082T>A	ENSP00000512444.1:n.*1082T>A
ENST00000256474.3:c.*1082T>A MANE Select	ENSP00000256474.3:n.*1082T>A
ENST00000256474.2:c.*1082T>A	ENSP00000256474.2:n.*1082T>A
ENST00000345392.2:c.*1082T>A	ENSP00000344757.2:n.*1082T>A
NM_000551.3:c.*1082T>A , LRG_322t1:c.*1082T>A	NP_000542.1:n.*1082T>A
NM_198156.2:c.*1082T>A	NP_937799.1:n.*1082T>A
NM_001354723.1:c.*1278T>A	NP_001341652.1:n.*1278T>A
NM_000551.4:c.*1082T>A MANE Select	NP_000542.1:n.*1082T>A
NM_001354723.2:c.*1278T>A	NP_001341652.1:n.*1278T>A
NM_198156.3:c.*1082T>A	NP_937799.1:n.*1082T>A