Canonical Allele Identifier: CA351753604
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2927177
ClinVar RCV Id: RCV003781367
dbSNP Id: rs1559428039

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146514G>T , CM000665.2:g.10146514G>T GRCh38
NC_000003.11:g.10188198G>T , CM000665.1:g.10188198G>T GRCh37
NC_000003.10:g.10163198G>T NCBI36
NG_008212.3:g.9880G>T , LRG_322:g.9880G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*18G>T ENSP00000512434.1:n.*18G>T
ENST00000696143.1:c.600-3273G>T ENSP00000512435.1:n.600-3273G>T
ENST00000696153.1:c.341G>T ENSP00000512444.1:p.Gly114Val
ENST00000256474.3:c.341G>T MANE Select ENSP00000256474.3:p.Gly114Val
ENST00000256474.2:c.341G>T ENSP00000256474.2:p.Gly114Val
ENST00000345392.2:c.341-3273G>T ENSP00000344757.2:n.341-3273G>T
ENST00000477538.1:n.477G>T
NM_000551.3:c.341G>T , LRG_322t1:c.341G>T NP_000542.1:p.Gly114Val
NM_198156.2:c.341-3273G>T NP_937799.1:n.341-3273G>T
XM_011534078.1:c.*18G>T XP_011532380.1:n.*18G>T
NM_001354723.1:c.*18-3273G>T NP_001341652.1:n.*18-3273G>T
NM_000551.4:c.341G>T MANE Select NP_000542.1:p.Gly114Val
NM_001354723.2:c.*18-3273G>T NP_001341652.1:n.*18-3273G>T
NM_198156.3:c.341-3273G>T NP_937799.1:n.341-3273G>T