Canonical Allele Identifier: CA802094
Gene: P3H1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42759316C>T
GRCh37 chr1:g.43224987C>T
gnomAD v2:
1:43224987 C / T
gnomAD v3:
1:42759316 C / T
gnomAD v4:
chr1-42759316-C-T
Joint Max Group AF 0.00069294 (NFE)
Genomes Max Group AF 0.00029248 (NFE)
Exomes Max Group AF 0.00071102 (NFE)
ClinVar Allele:
448071
ClinVar RCV:
RCV000532202
RCV000605499
RCV001096110
ClinVar Variation:
468988
dbSNP:
149113630
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42759316C>T , CM000663.2:g.42759316C>T GRCh38
NC_000001.10:g.43224987C>T , CM000663.1:g.43224987C>T GRCh37
NC_000001.9:g.42997574C>T NCBI36
NG_008123.1:g.12769G>A , LRG_5:g.12769G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.693G>A MANE Select ENSP00000296388.5:p.Ala231=
ENST00000236040.8:c.693G>A ENSP00000236040.4:p.Ala231=
ENST00000296388.9:c.693G>A ENSP00000296388.5:p.Ala231=
ENST00000372526.2:c.564G>A ENSP00000361604.2:p.Ala188=
ENST00000397054.7:c.693G>A ENSP00000380245.3:p.Ala231=
ENST00000460031.5:n.711G>A
ENST00000463465.1:n.159G>A
ENST00000495874.5:n.744G>A
NM_001146289.1:c.693G>A , LRG_5t2:c.693G>A NP_001139761.1:p.Ala231=
NM_001243246.1:c.693G>A , LRG_5t3:c.693G>A NP_001230175.1:p.Ala231=
NM_022356.3:c.693G>A , LRG_5t1:c.693G>A NP_071751.3:p.Ala231=
XM_005271110.2:c.-316G>A XP_005271167.1:n.-316G>A
XM_011541947.1:c.-338G>A XP_011540249.1:n.-338G>A
XM_011541948.1:c.-338G>A XP_011540250.1:n.-338G>A
XM_011541949.1:c.-338G>A XP_011540251.1:n.-338G>A
XR_946739.1:n.750G>A
XM_017002051.2:c.-338G>A XP_016857540.1:n.-338G>A
XM_017002052.2:c.-338G>A XP_016857541.1:n.-338G>A
XR_946739.2:n.750G>A
NM_022356.4:c.693G>A MANE Select NP_071751.3:p.Ala231=
NM_001146289.2:c.693G>A NP_001139761.1:p.Ala231=
NM_001243246.2:c.693G>A NP_001230175.1:p.Ala231=
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