Canonical Allele Identifier: CA16604772

Gene: VHL

Linked Data

• ClinVar Variation Id: 390882
• ClinVar RCV Id: RCV000435908 ; RCV001498383 ; RCV002339091
• dbSNP Id: rs1057523911
• gnomAD v4: 3-10149845-T-C
• MyVariant Identifiers: chr3:g.10191529T>C (hg19) ; chr3:g.10149845T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149845T>C , CM000665.2:g.10149845T>C	GRCh38
NC_000003.11:g.10191529T>C , CM000665.1:g.10191529T>C	GRCh37
NC_000003.10:g.10166529T>C	NCBI36
NG_008212.3:g.13211T>C , LRG_322:g.13211T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*199T>C	ENSP00000512434.1:n.*199T>C
ENST00000696143.1:c.658T>C	ENSP00000512435.1:n.658T>C
ENST00000696153.1:c.633T>C	ENSP00000512444.1:p.Asn211=
ENST00000256474.3:c.522T>C MANE Select	ENSP00000256474.3:p.Asn174=
ENST00000256474.2:c.522T>C	ENSP00000256474.2:p.Asn174=
ENST00000345392.2:c.399T>C	ENSP00000344757.2:p.Asn133=
ENST00000477538.1:n.658T>C
NM_000551.3:c.522T>C , LRG_322t1:c.522T>C	NP_000542.1:p.Asn174=
NM_198156.2:c.399T>C	NP_937799.1:p.Asn133=
NM_001354723.1:c.*76T>C	NP_001341652.1:n.*76T>C
NM_000551.4:c.522T>C MANE Select	NP_000542.1:p.Asn174=
NM_001354723.2:c.*76T>C	NP_001341652.1:n.*76T>C
NM_198156.3:c.399T>C	NP_937799.1:p.Asn133=