Canonical Allele Identifier: CA351756295

Gene: VHL

Linked Data

• ClinVar Variation Id: 1747433
• ClinVar RCV Id: RCV002349485
• dbSNP Id: rs878854127
• MyVariant Identifiers: chr3:g.10191548G>C (hg19) ; chr3:g.10149864G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149864G>C , CM000665.2:g.10149864G>C	GRCh38
NC_000003.11:g.10191548G>C , CM000665.1:g.10191548G>C	GRCh37
NC_000003.10:g.10166548G>C	NCBI36
NG_008212.3:g.13230G>C , LRG_322:g.13230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*218G>C	ENSP00000512434.1:n.*218G>C
ENST00000696143.1:c.677G>C	ENSP00000512435.1:n.677G>C
ENST00000696153.1:c.652G>C	ENSP00000512444.1:p.Val218Leu
ENST00000256474.3:c.541G>C MANE Select	ENSP00000256474.3:p.Val181Leu
ENST00000256474.2:c.541G>C	ENSP00000256474.2:p.Val181Leu
ENST00000345392.2:c.418G>C	ENSP00000344757.2:p.Val140Leu
ENST00000477538.1:n.677G>C
NM_000551.3:c.541G>C , LRG_322t1:c.541G>C	NP_000542.1:p.Val181Leu
NM_198156.2:c.418G>C	NP_937799.1:p.Val140Leu
NM_001354723.1:c.*95G>C	NP_001341652.1:n.*95G>C
NM_000551.4:c.541G>C MANE Select	NP_000542.1:p.Val181Leu
NM_001354723.2:c.*95G>C	NP_001341652.1:n.*95G>C
NM_198156.3:c.418G>C	NP_937799.1:p.Val140Leu