Canonical Allele Identifier: CA351747296

Gene: VHL

Linked Data

• ClinVar Variation Id: 1442279
• ClinVar RCV Id: RCV001969825 ; RCV003892994
• dbSNP Id: rs2125124549
• gnomAD v4: 3-10141903-G-T
• MyVariant Identifiers: chr3:g.10183587G>T (hg19) ; chr3:g.10141903G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141903G>T , CM000665.2:g.10141903G>T	GRCh38
NC_000003.11:g.10183587G>T , CM000665.1:g.10183587G>T	GRCh37
NC_000003.10:g.10158587G>T	NCBI36
NG_008212.3:g.5269G>T , LRG_322:g.5269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.56G>T	ENSP00000512434.1:p.Gly19Val
ENST00000696143.1:c.56G>T	ENSP00000512435.1:p.Gly19Val
ENST00000696153.1:c.56G>T	ENSP00000512444.1:p.Gly19Val
ENST00000256474.3:c.56G>T MANE Select	ENSP00000256474.3:p.Gly19Val
ENST00000256474.2:c.56G>T	ENSP00000256474.2:p.Gly19Val
ENST00000345392.2:c.56G>T	ENSP00000344757.2:p.Gly19Val
NM_000551.3:c.56G>T , LRG_322t1:c.56G>T	NP_000542.1:p.Gly19Val
NM_198156.2:c.56G>T	NP_937799.1:p.Gly19Val
XM_011534078.1:c.56G>T	XP_011532380.1:p.Gly19Val
NM_001354723.1:c.56G>T	NP_001341652.1:p.Gly19Val
NM_000551.4:c.56G>T MANE Select	NP_000542.1:p.Gly19Val
NM_001354723.2:c.56G>T	NP_001341652.1:p.Gly19Val
NM_198156.3:c.56G>T	NP_937799.1:p.Gly19Val