Canonical Allele Identifier: CA351756093

Gene: VHL

Linked Data

• ClinVar Variation Id: 958243
• ClinVar RCV Id: RCV001231369 ; RCV002484264
• dbSNP Id: rs1696354965
• gnomAD v4: 3-10149801-G-C
• MyVariant Identifiers: chr3:g.10191485G>C (hg19) ; chr3:g.10149801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149801G>C , CM000665.2:g.10149801G>C	GRCh38
NC_000003.11:g.10191485G>C , CM000665.1:g.10191485G>C	GRCh37
NC_000003.10:g.10166485G>C	NCBI36
NG_008212.3:g.13167G>C , LRG_322:g.13167G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*155G>C	ENSP00000512434.1:n.*155G>C
ENST00000696143.1:c.614G>C	ENSP00000512435.1:n.614G>C
ENST00000696153.1:c.589G>C	ENSP00000512444.1:p.Glu197Gln
ENST00000256474.3:c.478G>C MANE Select	ENSP00000256474.3:p.Glu160Gln
ENST00000256474.2:c.478G>C	ENSP00000256474.2:p.Glu160Gln
ENST00000345392.2:c.355G>C	ENSP00000344757.2:p.Glu119Gln
ENST00000477538.1:n.614G>C
NM_000551.3:c.478G>C , LRG_322t1:c.478G>C	NP_000542.1:p.Glu160Gln
NM_198156.2:c.355G>C	NP_937799.1:p.Glu119Gln
NM_001354723.1:c.*32G>C	NP_001341652.1:n.*32G>C
NM_000551.4:c.478G>C MANE Select	NP_000542.1:p.Glu160Gln
NM_001354723.2:c.*32G>C	NP_001341652.1:n.*32G>C
NM_198156.3:c.355G>C	NP_937799.1:p.Glu119Gln