Canonical Allele Identifier: CA357127

Gene: VHL

Linked Data

• ClinVar Variation Id: 223201
• ClinVar RCV Id: RCV000208860
• dbSNP Id: rs869025643
• MyVariant Identifiers: chr3:g.10188231A>C (hg19) ; chr3:g.10146547A>C (hg38)
• CIViC: CA357127

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146547A>C , CM000665.2:g.10146547A>C	GRCh38
NC_000003.11:g.10188231A>C , CM000665.1:g.10188231A>C	GRCh37
NC_000003.10:g.10163231A>C	NCBI36
NG_008212.3:g.9913A>C , LRG_322:g.9913A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*51A>C	ENSP00000512434.1:n.*51A>C
ENST00000696143.1:c.600-3240A>C	ENSP00000512435.1:n.600-3240A>C
ENST00000696153.1:c.374A>C	ENSP00000512444.1:p.His125Pro
ENST00000256474.3:c.374A>C MANE Select	ENSP00000256474.3:p.His125Pro
ENST00000256474.2:c.374A>C	ENSP00000256474.2:p.His125Pro
ENST00000345392.2:c.341-3240A>C	ENSP00000344757.2:n.341-3240A>C
ENST00000477538.1:n.510A>C
NM_000551.3:c.374A>C , LRG_322t1:c.374A>C	NP_000542.1:p.His125Pro
NM_198156.2:c.341-3240A>C	NP_937799.1:n.341-3240A>C
XM_011534078.1:c.*51A>C	XP_011532380.1:n.*51A>C
NM_001354723.1:c.*18-3240A>C	NP_001341652.1:n.*18-3240A>C
NM_000551.4:c.374A>C MANE Select	NP_000542.1:p.His125Pro
NM_001354723.2:c.*18-3240A>C	NP_001341652.1:n.*18-3240A>C
NM_198156.3:c.341-3240A>C	NP_937799.1:n.341-3240A>C