Canonical Allele Identifier: CA801681

Gene: P3H1

Linked Data

• ClinVar Variation Id: 468977
• ClinVar RCV Id: RCV000559453 ; RCV002279354
• dbSNP Id: rs374946028
• ExAC: 1:43213862 C / T
• gnomAD v2: 1-43213862-C-T
• gnomAD v3: 1-42748191-C-T
• gnomAD v4: 1-42748191-C-T
• MyVariant Identifiers: chr1:g.43213862C>T (hg19) ; chr1:g.42748191C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42748191C>T , CM000663.2:g.42748191C>T	GRCh38
NC_000001.10:g.43213862C>T , CM000663.1:g.43213862C>T	GRCh37
NC_000001.9:g.42986449C>T	NCBI36
NG_008123.1:g.23894G>A , LRG_5:g.23894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296388.10:c.1838+9G>A MANE Select	ENSP00000296388.5:n.1838+9G>A
ENST00000236040.8:c.1838+9G>A	ENSP00000236040.4:n.1838+9G>A
ENST00000296388.9:c.1838+9G>A	ENSP00000296388.5:n.1838+9G>A
ENST00000397054.7:c.1838+9G>A	ENSP00000380245.3:n.1838+9G>A
ENST00000431412.3:c.760+9G>A
ENST00000460031.5:n.2030+9G>A
ENST00000460831.1:n.544+9G>A
ENST00000495874.5:n.2118+9G>A
NM_001146289.1:c.1838+9G>A , LRG_5t2:c.1838+9G>A	NP_001139761.1:n.1838+9G>A
NM_001243246.1:c.1838+9G>A , LRG_5t3:c.1838+9G>A	NP_001230175.1:n.1838+9G>A
NM_022356.3:c.1838+9G>A , LRG_5t1:c.1838+9G>A	NP_071751.3:n.1838+9G>A
XM_005271110.2:c.830+9G>A	XP_005271167.1:n.830+9G>A
XM_011541947.1:c.863+9G>A	XP_011540249.1:n.863+9G>A
XM_011541948.1:c.863+9G>A	XP_011540250.1:n.863+9G>A
XM_011541949.1:c.860+9G>A	XP_011540251.1:n.860+9G>A
XM_017002051.2:c.863+9G>A	XP_016857540.1:n.863+9G>A
XM_017002052.2:c.860+9G>A	XP_016857541.1:n.860+9G>A
XR_946739.2:n.1963+9G>A
NM_022356.4:c.1838+9G>A MANE Select	NP_071751.3:n.1838+9G>A
NM_001146289.2:c.1838+9G>A	NP_001139761.1:n.1838+9G>A
NM_001243246.2:c.1838+9G>A	NP_001230175.1:n.1838+9G>A