Canonical Allele Identifier: CA351748061
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 1479906
ClinVar RCV Id: RCV002021926
dbSNP Id: rs1056226386
gnomAD v4: 3-10141978-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141978G>C , CM000665.2:g.10141978G>C GRCh38
NC_000003.11:g.10183662G>C , CM000665.1:g.10183662G>C GRCh37
NC_000003.10:g.10158662G>C NCBI36
NG_008212.3:g.5344G>C , LRG_322:g.5344G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.131G>C ENSP00000512434.1:p.Gly44Ala
ENST00000696143.1:c.131G>C ENSP00000512435.1:p.Gly44Ala
ENST00000696153.1:c.131G>C ENSP00000512444.1:p.Gly44Ala
ENST00000256474.3:c.131G>C MANE Select ENSP00000256474.3:p.Gly44Ala
ENST00000256474.2:c.131G>C ENSP00000256474.2:p.Gly44Ala
ENST00000345392.2:c.131G>C ENSP00000344757.2:p.Gly44Ala
NM_000551.3:c.131G>C , LRG_322t1:c.131G>C NP_000542.1:p.Gly44Ala
NM_198156.2:c.131G>C NP_937799.1:p.Gly44Ala
XM_011534078.1:c.131G>C XP_011532380.1:p.Gly44Ala
NM_001354723.1:c.131G>C NP_001341652.1:p.Gly44Ala
NM_000551.4:c.131G>C MANE Select NP_000542.1:p.Gly44Ala
NM_001354723.2:c.131G>C NP_001341652.1:p.Gly44Ala
NM_198156.3:c.131G>C NP_937799.1:p.Gly44Ala