Canonical Allele Identifier: CA801637
Gene: P3H1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42747397G>T
GRCh37 chr1:g.43213068G>T
Revel Score:
ENST00000397054 0.065
ENST00000236040 0.065
ENST00000296388 (MANE Select) 0.065
ENST00000540027 0.065
gnomAD v2:
1:43213068 G / T
gnomAD v3:
1:42747397 G / T
gnomAD v4:
chr1-42747397-G-T
Joint Max Group AF 0.01232133 (EAS)
Genomes Max Group AF 0.00367542 (EAS)
Exomes Max Group AF 0.01327469 (EAS)
ClinVar Allele:
448116
ClinVar RCV:
RCV000547688
RCV001099454
RCV001539895
ClinVar Variation:
468979
dbSNP:
3738497
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42747397G>T , CM000663.2:g.42747397G>T GRCh38
NC_000001.10:g.43213068G>T , CM000663.1:g.43213068G>T GRCh37
NC_000001.9:g.42985655G>T NCBI36
NG_008123.1:g.24688C>A , LRG_5:g.24688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.1930C>A MANE Select ENSP00000296388.5:p.Gln644Lys
ENST00000236040.8:c.1930C>A ENSP00000236040.4:p.Gln644Lys
ENST00000296388.9:c.1930C>A ENSP00000296388.5:p.Gln644Lys
ENST00000397054.7:c.1930C>A ENSP00000380245.3:p.Gln644Lys
ENST00000460031.5:n.2122C>A
ENST00000462474.5:n.92C>A
ENST00000472802.1:n.180C>A
ENST00000495874.5:n.2210C>A
NM_001146289.1:c.1930C>A , LRG_5t2:c.1930C>A NP_001139761.1:p.Gln644Lys
NM_001243246.1:c.1930C>A , LRG_5t3:c.1930C>A NP_001230175.1:p.Gln644Lys
NM_022356.3:c.1930C>A , LRG_5t1:c.1930C>A NP_071751.3:p.Gln644Lys
XM_005271110.2:c.922C>A XP_005271167.1:p.Gln308Lys
XM_011541947.1:c.955C>A XP_011540249.1:p.Gln319Lys
XM_011541948.1:c.955C>A XP_011540250.1:p.Gln319Lys
XM_011541949.1:c.952C>A XP_011540251.1:p.Gln318Lys
XM_017002051.2:c.955C>A XP_016857540.1:p.Gln319Lys
XM_017002052.2:c.952C>A XP_016857541.1:p.Gln318Lys
NM_022356.4:c.1930C>A MANE Select NP_071751.3:p.Gln644Lys
NM_001146289.2:c.1930C>A NP_001139761.1:p.Gln644Lys
NM_001243246.2:c.1930C>A NP_001230175.1:p.Gln644Lys
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