Canonical Allele Identifier: CA351747163

Gene: VHL

Linked Data

• ClinVar Variation Id: 526680
• ClinVar RCV Id: RCV000631277
• dbSNP Id: rs1553619289
• gnomAD v2: 3-10183569-T-G
• gnomAD v4: 3-10141885-T-G
• MyVariant Identifiers: chr3:g.10183569T>G (hg19) ; chr3:g.10141885T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141885T>G , CM000665.2:g.10141885T>G	GRCh38
NC_000003.11:g.10183569T>G , CM000665.1:g.10183569T>G	GRCh37
NC_000003.10:g.10158569T>G	NCBI36
NG_008212.3:g.5251T>G , LRG_322:g.5251T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.38T>G	ENSP00000512434.1:p.Val13Gly
ENST00000696143.1:c.38T>G	ENSP00000512435.1:p.Val13Gly
ENST00000696153.1:c.38T>G	ENSP00000512444.1:p.Val13Gly
ENST00000256474.3:c.38T>G MANE Select	ENSP00000256474.3:p.Val13Gly
ENST00000256474.2:c.38T>G	ENSP00000256474.2:p.Val13Gly
ENST00000345392.2:c.38T>G	ENSP00000344757.2:p.Val13Gly
NM_000551.3:c.38T>G , LRG_322t1:c.38T>G	NP_000542.1:p.Val13Gly
NM_198156.2:c.38T>G	NP_937799.1:p.Val13Gly
XM_011534078.1:c.38T>G	XP_011532380.1:p.Val13Gly
NM_001354723.1:c.38T>G	NP_001341652.1:p.Val13Gly
NM_000551.4:c.38T>G MANE Select	NP_000542.1:p.Val13Gly
NM_001354723.2:c.38T>G	NP_001341652.1:p.Val13Gly
NM_198156.3:c.38T>G	NP_937799.1:p.Val13Gly