Canonical Allele Identifier: CA801813
Gene: P3H1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42752339C>G
GRCh37 chr1:g.43218010C>G
Revel Score:
ENST00000447502 0.489
ENST00000397054 0.719
ENST00000236040 0.719
ENST00000296388 (MANE Select) 0.719
ENST00000540027 0.719
gnomAD v2:
1:43218010 C / G
gnomAD v3:
1:42752339 C / G
gnomAD v4:
chr1-42752339-C-G
Joint Max Group AF 0.00116609 (NFE)
Genomes Max Group AF 0.00091469 (NFE)
Exomes Max Group AF 0.00116999 (NFE)
ClinVar Allele:
414799
ClinVar RCV:
RCV000489750
RCV000538652
RCV001097772
ClinVar Variation:
426382
dbSNP:
139259804
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42752339C>G , CM000663.2:g.42752339C>G GRCh38
NC_000001.10:g.43218010C>G , CM000663.1:g.43218010C>G GRCh37
NC_000001.9:g.42990597C>G NCBI36
NG_008123.1:g.19746G>C , LRG_5:g.19746G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.1504G>C MANE Select ENSP00000296388.5:p.Gly502Arg
ENST00000236040.8:c.1504G>C ENSP00000236040.4:p.Gly502Arg
ENST00000296388.9:c.1504G>C ENSP00000296388.5:p.Gly502Arg
ENST00000397054.7:c.1504G>C ENSP00000380245.3:p.Gly502Arg
ENST00000431412.3:c.326G>C
ENST00000447502.2:n.278G>C
ENST00000460031.5:n.1696G>C
ENST00000481465.3:n.227G>C
ENST00000495874.5:n.1784G>C
NM_001146289.1:c.1504G>C , LRG_5t2:c.1504G>C NP_001139761.1:p.Gly502Arg
NM_001243246.1:c.1504G>C , LRG_5t3:c.1504G>C NP_001230175.1:p.Gly502Arg
NM_022356.3:c.1504G>C , LRG_5t1:c.1504G>C NP_071751.3:p.Gly502Arg
XM_005271110.2:c.496G>C XP_005271167.1:p.Gly166Arg
XM_011541947.1:c.529G>C XP_011540249.1:p.Gly177Arg
XM_011541948.1:c.529G>C XP_011540250.1:p.Gly177Arg
XM_011541949.1:c.526G>C XP_011540251.1:p.Gly176Arg
XM_017002051.2:c.529G>C XP_016857540.1:p.Gly177Arg
XM_017002052.2:c.526G>C XP_016857541.1:p.Gly176Arg
XR_946739.2:n.1629G>C
NM_022356.4:c.1504G>C MANE Select NP_071751.3:p.Gly502Arg
NM_001146289.2:c.1504G>C NP_001139761.1:p.Gly502Arg
NM_001243246.2:c.1504G>C NP_001230175.1:p.Gly502Arg
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