Canonical Allele Identifier: CA351747889

Gene: VHL

Linked Data

• ClinVar Variation Id: 1006593
• ClinVar RCV Id: RCV001303659 ; RCV002341603
• dbSNP Id: rs776399733
• gnomAD v4: 3-10141965-C-G
• MyVariant Identifiers: chr3:g.10183649C>G (hg19) ; chr3:g.10141965C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141965C>G , CM000665.2:g.10141965C>G	GRCh38
NC_000003.11:g.10183649C>G , CM000665.1:g.10183649C>G	GRCh37
NC_000003.10:g.10158649C>G	NCBI36
NG_008212.3:g.5331C>G , LRG_322:g.5331C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.118C>G	ENSP00000512434.1:p.Pro40Ala
ENST00000696143.1:c.118C>G	ENSP00000512435.1:p.Pro40Ala
ENST00000696153.1:c.118C>G	ENSP00000512444.1:p.Pro40Ala
ENST00000256474.3:c.118C>G MANE Select	ENSP00000256474.3:p.Pro40Ala
ENST00000256474.2:c.118C>G	ENSP00000256474.2:p.Pro40Ala
ENST00000345392.2:c.118C>G	ENSP00000344757.2:p.Pro40Ala
NM_000551.3:c.118C>G , LRG_322t1:c.118C>G	NP_000542.1:p.Pro40Ala
NM_198156.2:c.118C>G	NP_937799.1:p.Pro40Ala
XM_011534078.1:c.118C>G	XP_011532380.1:p.Pro40Ala
NM_001354723.1:c.118C>G	NP_001341652.1:p.Pro40Ala
NM_000551.4:c.118C>G MANE Select	NP_000542.1:p.Pro40Ala
NM_001354723.2:c.118C>G	NP_001341652.1:p.Pro40Ala
NM_198156.3:c.118C>G	NP_937799.1:p.Pro40Ala