Canonical Allele Identifier: CA16617793

Gene: VHL

Linked Data

• ClinVar Variation Id: 421162
• ClinVar RCV Id: RCV000487120
• dbSNP Id: rs1064794951
• MyVariant Identifiers: chr3:g.10191596G>C (hg19) ; chr3:g.10149912G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149912G>C , CM000665.2:g.10149912G>C	GRCh38
NC_000003.11:g.10191596G>C , CM000665.1:g.10191596G>C	GRCh37
NC_000003.10:g.10166596G>C	NCBI36
NG_008212.3:g.13278G>C , LRG_322:g.13278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*266G>C	ENSP00000512434.1:n.*266G>C
ENST00000696143.1:c.725G>C	ENSP00000512435.1:n.725G>C
ENST00000696153.1:c.700G>C	ENSP00000512444.1:p.Asp234His
ENST00000256474.3:c.589G>C MANE Select	ENSP00000256474.3:p.Asp197His
ENST00000256474.2:c.589G>C	ENSP00000256474.2:p.Asp197His
ENST00000345392.2:c.466G>C	ENSP00000344757.2:p.Asp156His
ENST00000477538.1:n.725G>C
NM_000551.3:c.589G>C , LRG_322t1:c.589G>C	NP_000542.1:p.Asp197His
NM_198156.2:c.466G>C	NP_937799.1:p.Asp156His
NM_001354723.1:c.*143G>C	NP_001341652.1:n.*143G>C
NM_000551.4:c.589G>C MANE Select	NP_000542.1:p.Asp197His
NM_001354723.2:c.*143G>C	NP_001341652.1:n.*143G>C
NM_198156.3:c.466G>C	NP_937799.1:p.Asp156His