Canonical Allele Identifier: CA041760

Gene: VHL

Linked Data

• ClinVar Variation Id: 526682
• ClinVar RCV Id: RCV000631279 ; RCV001024729 ; RCV001544814 ; RCV004002810 ; RCV003459502
• dbSNP Id: rs760690217
• ExAC: 3:10191603 A / C
• gnomAD v2: 3-10191603-A-C
• gnomAD v4: 3-10149919-A-C
• MyVariant Identifiers: chr3:g.10191603A>C (hg19) ; chr3:g.10149919A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149919A>C , CM000665.2:g.10149919A>C	GRCh38
NC_000003.11:g.10191603A>C , CM000665.1:g.10191603A>C	GRCh37
NC_000003.10:g.10166603A>C	NCBI36
NG_008212.3:g.13285A>C , LRG_322:g.13285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*273A>C	ENSP00000512434.1:n.*273A>C
ENST00000696143.1:c.732A>C	ENSP00000512435.1:n.732A>C
ENST00000696153.1:c.707A>C	ENSP00000512444.1:p.Glu236Ala
ENST00000256474.3:c.596A>C MANE Select	ENSP00000256474.3:p.Glu199Ala
ENST00000256474.2:c.596A>C	ENSP00000256474.2:p.Glu199Ala
ENST00000345392.2:c.473A>C	ENSP00000344757.2:p.Glu158Ala
ENST00000477538.1:n.732A>C
NM_000551.3:c.596A>C , LRG_322t1:c.596A>C	NP_000542.1:p.Glu199Ala
NM_198156.2:c.473A>C	NP_937799.1:p.Glu158Ala
NM_001354723.1:c.*150A>C	NP_001341652.1:n.*150A>C
NM_000551.4:c.596A>C MANE Select	NP_000542.1:p.Glu199Ala
NM_001354723.2:c.*150A>C	NP_001341652.1:n.*150A>C
NM_198156.3:c.473A>C	NP_937799.1:p.Glu158Ala