Canonical Allele Identifier: CA351756111

Gene: VHL

Linked Data

• ClinVar Variation Id: 1743417
• ClinVar RCV Id: RCV002338068
• dbSNP Id: rs730882035
• COSMIC: COSM17909
• MyVariant Identifiers: chr3:g.10191489G>C (hg19) ; chr3:g.10149805G>C (hg38)
• CIViC: CA351756111
• PCER: P-CER:CA351756111/193300

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149805G>C , CM000665.2:g.10149805G>C	GRCh38
NC_000003.11:g.10191489G>C , CM000665.1:g.10191489G>C	GRCh37
NC_000003.10:g.10166489G>C	NCBI36
NG_008212.3:g.13171G>C , LRG_322:g.13171G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*159G>C	ENSP00000512434.1:n.*159G>C
ENST00000696143.1:c.618G>C	ENSP00000512435.1:n.618G>C
ENST00000696153.1:c.593G>C	ENSP00000512444.1:p.Arg198Pro
ENST00000256474.3:c.482G>C MANE Select	ENSP00000256474.3:p.Arg161Pro
ENST00000256474.2:c.482G>C	ENSP00000256474.2:p.Arg161Pro
ENST00000345392.2:c.359G>C	ENSP00000344757.2:p.Arg120Pro
ENST00000477538.1:n.618G>C
NM_000551.3:c.482G>C , LRG_322t1:c.482G>C	NP_000542.1:p.Arg161Pro
NM_198156.2:c.359G>C	NP_937799.1:p.Arg120Pro
NM_001354723.1:c.*36G>C	NP_001341652.1:n.*36G>C
NM_000551.4:c.482G>C MANE Select	NP_000542.1:p.Arg161Pro
NM_001354723.2:c.*36G>C	NP_001341652.1:n.*36G>C
NM_198156.3:c.359G>C	NP_937799.1:p.Arg120Pro