Canonical Allele Identifier: CA2573136092

Gene: VHL

Linked Data

• ClinVar Variation Id: 1499900
• ClinVar RCV Id: RCV002042455
• dbSNP Id: rs2125125847

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142770G>C , CM000665.2:g.10142770G>C	GRCh38
NC_000003.11:g.10184454G>C , CM000665.1:g.10184454G>C	GRCh37
NC_000003.10:g.10159454G>C	NCBI36
NG_008212.3:g.6136G>C , LRG_322:g.6136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.348G>C	ENSP00000512434.1:p.Met116Ile
ENST00000696143.1:c.348G>C	ENSP00000512435.1:p.Met116Ile
ENST00000696153.1:c.340+583G>C	ENSP00000512444.1:n.340+583G>C
ENST00000256474.3:c.340+583G>C MANE Select	ENSP00000256474.3:n.340+583G>C
ENST00000256474.2:c.340+583G>C	ENSP00000256474.2:n.340+583G>C
ENST00000345392.2:c.340+583G>C	ENSP00000344757.2:n.340+583G>C
ENST00000477538.1:n.225G>C
NM_000551.3:c.340+583G>C , LRG_322t1:c.340+583G>C	NP_000542.1:n.340+583G>C
NM_198156.2:c.340+583G>C	NP_937799.1:n.340+583G>C
XM_011534078.1:c.348G>C	XP_011532380.1:p.Met116Ile
NM_001354723.1:c.348G>C	NP_001341652.1:p.Met116Ile
NM_000551.4:c.340+583G>C MANE Select	NP_000542.1:n.340+583G>C
NM_001354723.2:c.348G>C	NP_001341652.1:p.Met116Ile
NM_198156.3:c.340+583G>C	NP_937799.1:n.340+583G>C