Canonical Allele Identifier: CA70052851

Gene: VHL

Linked Data

• dbSNP Id: rs1053915956
• gnomAD v3: 3-10150261-A-G
• gnomAD v4: 3-10150261-A-G
• MyVariant Identifiers: chr3:g.10191945A>G (hg19) ; chr3:g.10150261A>G (hg38)

Genomic Alleles

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

Transcript Alleles

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