Canonical Allele Identifier: CA432536217

Gene: VHL

Linked Data

• ClinVar Variation Id: 486715
• ClinVar RCV Id: RCV000574961 ; RCV000679046 ; RCV001081534 ; RCV004001179
• dbSNP Id: rs1375079282
• gnomAD v2: 3-10183603-C-A
• gnomAD v4: 3-10141919-C-A
• MyVariant Identifiers: chr3:g.10183603C>A (hg19) ; chr3:g.10141919C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141919C>A , CM000665.2:g.10141919C>A	GRCh38
NC_000003.11:g.10183603C>A , CM000665.1:g.10183603C>A	GRCh37
NC_000003.10:g.10158603C>A	NCBI36
NG_008212.3:g.5285C>A , LRG_322:g.5285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.72C>A	ENSP00000512434.1:p.Gly24=
ENST00000696143.1:c.72C>A	ENSP00000512435.1:p.Gly24=
ENST00000696153.1:c.72C>A	ENSP00000512444.1:p.Gly24=
ENST00000256474.3:c.72C>A MANE Select	ENSP00000256474.3:p.Gly24=
ENST00000256474.2:c.72C>A	ENSP00000256474.2:p.Gly24=
ENST00000345392.2:c.72C>A	ENSP00000344757.2:p.Gly24=
NM_000551.3:c.72C>A , LRG_322t1:c.72C>A	NP_000542.1:p.Gly24=
NM_198156.2:c.72C>A	NP_937799.1:p.Gly24=
XM_011534078.1:c.72C>A	XP_011532380.1:p.Gly24=
NM_001354723.1:c.72C>A	NP_001341652.1:p.Gly24=
NM_000551.4:c.72C>A MANE Select	NP_000542.1:p.Gly24=
NM_001354723.2:c.72C>A	NP_001341652.1:p.Gly24=
NM_198156.3:c.72C>A	NP_937799.1:p.Gly24=