Canonical Allele Identifier: CA915941842

Gene: VHL

Linked Data

• ClinVar Variation Id: 816686
• ClinVar RCV Id: RCV001007627 ; RCV001066413
• dbSNP Id: rs1575923363
• gnomAD v3: 3-10142879-G-GGAAGAGCCGACCGTGTGT
• gnomAD v4: 3-10142879-G-GGAAGAGCCGACCGTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142881_10142898dup , CM000665.2:g.10142881_10142898dup	GRCh38
NC_000003.11:g.10184565_10184582dup , CM000665.1:g.10184565_10184582dup	GRCh37
NC_000003.10:g.10159565_10159582dup	NCBI36
NG_008212.3:g.6247_6264dup , LRG_322:g.6247_6264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.459_476dup	ENSP00000512434.1:p.Trp159Ter
ENST00000696143.1:c.459_476dup	ENSP00000512435.1:p.Trp159Ter
ENST00000696153.1:c.340+694_340+711dup	ENSP00000512444.1:n.340+694_340+711dup
ENST00000256474.3:c.340+694_340+711dup MANE Select	ENSP00000256474.3:n.340+694_340+711dup
ENST00000256474.2:c.340+694_340+711dup	ENSP00000256474.2:n.340+694_340+711dup
ENST00000345392.2:c.340+694_340+711dup	ENSP00000344757.2:n.340+694_340+711dup
ENST00000477538.1:n.336_353dup
NM_000551.3:c.340+694_340+711dup , LRG_322t1:c.340+694_340+711dup	NP_000542.1:n.340+694_340+711dup
NM_198156.2:c.340+694_340+711dup	NP_937799.1:n.340+694_340+711dup
XM_011534078.1:c.459_476dup	XP_011532380.1:p.Trp159Ter
NM_001354723.1:c.459_476dup	NP_001341652.1:p.Trp159Ter
NM_000551.4:c.340+694_340+711dup MANE Select	NP_000542.1:n.340+694_340+711dup
NM_001354723.2:c.459_476dup	NP_001341652.1:p.Trp159Ter
NM_198156.3:c.340+694_340+711dup	NP_937799.1:n.340+694_340+711dup