Canonical Allele Identifier: CA1345067569

Gene: VHL

Linked Data

• ClinVar Variation Id: 1051126
• ClinVar RCV Id: RCV001359121
• dbSNP Id: rs1696164389

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142991G>C , CM000665.2:g.10142991G>C	GRCh38
NC_000003.11:g.10184675G>C , CM000665.1:g.10184675G>C	GRCh37
NC_000003.10:g.10159675G>C	NCBI36
NG_008212.3:g.6357G>C , LRG_322:g.6357G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.569G>C	ENSP00000512434.1:p.Ser190Thr
ENST00000696143.1:c.569G>C	ENSP00000512435.1:p.Ser190Thr
ENST00000696153.1:c.340+804G>C	ENSP00000512444.1:n.340+804G>C
ENST00000256474.3:c.340+804G>C MANE Select	ENSP00000256474.3:n.340+804G>C
ENST00000256474.2:c.340+804G>C	ENSP00000256474.2:n.340+804G>C
ENST00000345392.2:c.340+804G>C	ENSP00000344757.2:n.340+804G>C
ENST00000477538.1:n.446G>C
NM_000551.3:c.340+804G>C , LRG_322t1:c.340+804G>C	NP_000542.1:n.340+804G>C
NM_198156.2:c.340+804G>C	NP_937799.1:n.340+804G>C
XM_011534078.1:c.569G>C	XP_011532380.1:p.Ser190Thr
NM_001354723.1:c.569G>C	NP_001341652.1:p.Ser190Thr
NM_000551.4:c.340+804G>C MANE Select	NP_000542.1:n.340+804G>C
NM_001354723.2:c.569G>C	NP_001341652.1:p.Ser190Thr
NM_198156.3:c.340+804G>C	NP_937799.1:n.340+804G>C