Canonical Allele Identifier: CA801964
Gene: P3H1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.42755598C>A
GRCh37 chr1:g.43221269C>A
gnomAD v2:
1:43221269 C / A
gnomAD v3:
1:42755598 C / A
gnomAD v4:
chr1-42755598-C-A
Joint Max Group AF 0.00000553 (AMR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
275284
ClinVar RCV:
RCV000369412
RCV003454835
ClinVar Variation:
291047
dbSNP:
140468248
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42755598C>A , CM000663.2:g.42755598C>A GRCh38
NC_000001.10:g.43221269C>A , CM000663.1:g.43221269C>A GRCh37
NC_000001.9:g.42993856C>A NCBI36
NG_008123.1:g.16487G>T , LRG_5:g.16487G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296388.10:c.1120G>T MANE Select ENSP00000296388.5:p.Glu374Ter
ENST00000236040.8:c.1120G>T ENSP00000236040.4:p.Glu374Ter
ENST00000296388.9:c.1120G>T ENSP00000296388.5:p.Glu374Ter
ENST00000397054.7:c.1120G>T ENSP00000380245.3:p.Glu374Ter
ENST00000460031.5:n.1138G>T
ENST00000463465.1:n.609G>T
ENST00000495874.5:n.1226G>T
NM_001146289.1:c.1120G>T , LRG_5t2:c.1120G>T NP_001139761.1:p.Glu374Ter
NM_001243246.1:c.1120G>T , LRG_5t3:c.1120G>T NP_001230175.1:p.Glu374Ter
NM_022356.3:c.1120G>T , LRG_5t1:c.1120G>T NP_071751.3:p.Glu374Ter
XM_005271110.2:c.112G>T XP_005271167.1:p.Glu38Ter
XM_011541947.1:c.145G>T XP_011540249.1:p.Glu49Ter
XM_011541948.1:c.145G>T XP_011540250.1:p.Glu49Ter
XM_011541949.1:c.142G>T XP_011540251.1:p.Glu48Ter
XR_946739.1:n.1177G>T
XM_017002051.2:c.145G>T XP_016857540.1:p.Glu49Ter
XM_017002052.2:c.142G>T XP_016857541.1:p.Glu48Ter
XR_946739.2:n.1177G>T
NM_022356.4:c.1120G>T MANE Select NP_071751.3:p.Glu374Ter
NM_001146289.2:c.1120G>T NP_001139761.1:p.Glu374Ter
NM_001243246.2:c.1120G>T NP_001230175.1:p.Glu374Ter
Search 100 bp 5'
Search 100 bp 3'