Canonical Allele Identifier: CA351756201

Gene: VHL

Linked Data

• ClinVar Variation Id: 1002726
• ClinVar RCV Id: RCV001299192
• dbSNP Id: rs1696358528
• MyVariant Identifiers: chr3:g.10191519A>G (hg19) ; chr3:g.10149835A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149835A>G , CM000665.2:g.10149835A>G	GRCh38
NC_000003.11:g.10191519A>G , CM000665.1:g.10191519A>G	GRCh37
NC_000003.10:g.10166519A>G	NCBI36
NG_008212.3:g.13201A>G , LRG_322:g.13201A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*189A>G	ENSP00000512434.1:n.*189A>G
ENST00000696143.1:c.648A>G	ENSP00000512435.1:n.648A>G
ENST00000696153.1:c.623A>G	ENSP00000512444.1:p.Lys208Arg
ENST00000256474.3:c.512A>G MANE Select	ENSP00000256474.3:p.Lys171Arg
ENST00000256474.2:c.512A>G	ENSP00000256474.2:p.Lys171Arg
ENST00000345392.2:c.389A>G	ENSP00000344757.2:p.Lys130Arg
ENST00000477538.1:n.648A>G
NM_000551.3:c.512A>G , LRG_322t1:c.512A>G	NP_000542.1:p.Lys171Arg
NM_198156.2:c.389A>G	NP_937799.1:p.Lys130Arg
NM_001354723.1:c.*66A>G	NP_001341652.1:n.*66A>G
NM_000551.4:c.512A>G MANE Select	NP_000542.1:p.Lys171Arg
NM_001354723.2:c.*66A>G	NP_001341652.1:n.*66A>G
NM_198156.3:c.389A>G	NP_937799.1:p.Lys130Arg