Canonical Allele Identifier: CA916832779

Gene: VHL

Linked Data

• dbSNP Id: rs1575933161
• gnomAD v4: 3-10150260-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150261dup , CM000665.2:g.10150261dup	GRCh38
NC_000003.11:g.10191945dup , CM000665.1:g.10191945dup	GRCh37
NC_000003.10:g.10166945dup	NCBI36
NG_008212.3:g.13627dup , LRG_322:g.13627dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*615dup	ENSP00000512434.1:n.*615dup
ENST00000696143.1:c.1074dup	ENSP00000512435.1:n.1074dup
ENST00000696153.1:c.*296dup	ENSP00000512444.1:n.*296dup
ENST00000256474.3:c.*296dup MANE Select	ENSP00000256474.3:n.*296dup
ENST00000256474.2:c.*296dup	ENSP00000256474.2:n.*296dup
ENST00000345392.2:c.*296dup	ENSP00000344757.2:n.*296dup
NM_000551.3:c.*296dup , LRG_322t1:c.*296dup	NP_000542.1:n.*296dup
NM_198156.2:c.*296dup	NP_937799.1:n.*296dup
NM_001354723.1:c.*492dup	NP_001341652.1:n.*492dup
NM_000551.4:c.*296dup MANE Select	NP_000542.1:n.*296dup
NM_001354723.2:c.*492dup	NP_001341652.1:n.*492dup
NM_198156.3:c.*296dup	NP_937799.1:n.*296dup