Canonical Allele Identifier: CA351756252

Gene: VHL

Linked Data

• ClinVar Variation Id: 1446619
• ClinVar RCV Id: RCV001996591
• dbSNP Id: rs767780451
• MyVariant Identifiers: chr3:g.10191542G>C (hg19) ; chr3:g.10149858G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149858G>C , CM000665.2:g.10149858G>C	GRCh38
NC_000003.11:g.10191542G>C , CM000665.1:g.10191542G>C	GRCh37
NC_000003.10:g.10166542G>C	NCBI36
NG_008212.3:g.13224G>C , LRG_322:g.13224G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*212G>C	ENSP00000512434.1:n.*212G>C
ENST00000696143.1:c.671G>C	ENSP00000512435.1:n.671G>C
ENST00000696153.1:c.646G>C	ENSP00000512444.1:p.Asp216His
ENST00000256474.3:c.535G>C MANE Select	ENSP00000256474.3:p.Asp179His
ENST00000256474.2:c.535G>C	ENSP00000256474.2:p.Asp179His
ENST00000345392.2:c.412G>C	ENSP00000344757.2:p.Asp138His
ENST00000477538.1:n.671G>C
NM_000551.3:c.535G>C , LRG_322t1:c.535G>C	NP_000542.1:p.Asp179His
NM_198156.2:c.412G>C	NP_937799.1:p.Asp138His
NM_001354723.1:c.*89G>C	NP_001341652.1:n.*89G>C
NM_000551.4:c.535G>C MANE Select	NP_000542.1:p.Asp179His
NM_001354723.2:c.*89G>C	NP_001341652.1:n.*89G>C
NM_198156.3:c.412G>C	NP_937799.1:p.Asp138His