Canonical Allele Identifier: CA1044995605

Gene: VHL

Linked Data

• dbSNP Id: rs1696167078
• gnomAD v3: 3-10143104-T-TG
• gnomAD v4: 3-10143104-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143109dup , CM000665.2:g.10143109dup	GRCh38
NC_000003.11:g.10184793dup , CM000665.1:g.10184793dup	GRCh37
NC_000003.10:g.10159793dup	NCBI36
NG_008212.3:g.6475dup , LRG_322:g.6475dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+88dup	ENSP00000512434.1:n.*17+88dup
ENST00000696143.1:c.599+88dup	ENSP00000512435.1:n.599+88dup
ENST00000696153.1:c.340+922dup	ENSP00000512444.1:n.340+922dup
ENST00000256474.3:c.340+922dup MANE Select	ENSP00000256474.3:n.340+922dup
ENST00000256474.2:c.340+922dup	ENSP00000256474.2:n.340+922dup
ENST00000345392.2:c.340+922dup	ENSP00000344757.2:n.340+922dup
ENST00000477538.1:n.476+88dup
NM_000551.3:c.340+922dup , LRG_322t1:c.340+922dup	NP_000542.1:n.340+922dup
NM_198156.2:c.340+922dup	NP_937799.1:n.340+922dup
XM_011534078.1:c.*17+88dup	XP_011532380.1:n.*17+88dup
NM_001354723.1:c.*17+88dup	NP_001341652.1:n.*17+88dup
NM_000551.4:c.340+922dup MANE Select	NP_000542.1:n.340+922dup
NM_001354723.2:c.*17+88dup	NP_001341652.1:n.*17+88dup
NM_198156.3:c.340+922dup	NP_937799.1:n.340+922dup