Canonical Allele Identifier: CA70051914

Gene: VHL

Linked Data

• dbSNP Id: rs756110912
• gnomAD v2: 3-10191244-C-G
• gnomAD v3: 3-10149560-C-G
• gnomAD v4: 3-10149560-C-G
• MyVariant Identifiers: chr3:g.10191244C>G (hg19) ; chr3:g.10149560C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149560C>G , CM000665.2:g.10149560C>G	GRCh38
NC_000003.11:g.10191244C>G , CM000665.1:g.10191244C>G	GRCh37
NC_000003.10:g.10166244C>G	NCBI36
NG_008212.3:g.12926C>G , LRG_322:g.12926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-227C>G	ENSP00000512434.1:n.*141-227C>G
ENST00000696143.1:c.600-227C>G	ENSP00000512435.1:n.600-227C>G
ENST00000696153.1:c.575-227C>G	ENSP00000512444.1:n.575-227C>G
ENST00000256474.3:c.464-227C>G MANE Select	ENSP00000256474.3:n.464-227C>G
ENST00000256474.2:c.464-227C>G	ENSP00000256474.2:n.464-227C>G
ENST00000345392.2:c.341-227C>G	ENSP00000344757.2:n.341-227C>G
ENST00000477538.1:n.600-227C>G
NM_000551.3:c.464-227C>G , LRG_322t1:c.464-227C>G	NP_000542.1:n.464-227C>G
NM_198156.2:c.341-227C>G	NP_937799.1:n.341-227C>G
NM_001354723.1:c.*18-227C>G	NP_001341652.1:n.*18-227C>G
NM_000551.4:c.464-227C>G MANE Select	NP_000542.1:n.464-227C>G
NM_001354723.2:c.*18-227C>G	NP_001341652.1:n.*18-227C>G
NM_198156.3:c.341-227C>G	NP_937799.1:n.341-227C>G