Canonical Allele Identifier: CA640362
Gene: PADI4 HGNC NCBI
COSMIC:
COSM3746670 (not active)
MyVariant.info:
GRCh38 chr1:g.17331039G>A
GRCh37 chr1:g.17657534G>A
Revel Score:
ENST00000375453 0.025
ENST00000358829 0.025
ENST00000375448 (MANE Select) 0.025
gnomAD v2:
1:17657534 G / A
gnomAD v3:
1:17331039 G / A
gnomAD v4:
chr1-17331039-G-A
Joint Max Group AF 0.58630742 (EAS)
Genomes Max Group AF 0.57913853 (NFE)
Exomes Max Group AF 0.58585106 (EAS)
ClinVar RCV:
RCV001249179
RCV003983860
ClinVar Variation:
972892
dbSNP:
11203366
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17331039G>A , CM000663.2:g.17331039G>A GRCh38
NC_000001.10:g.17657534G>A , CM000663.1:g.17657534G>A GRCh37
NC_000001.9:g.17530121G>A NCBI36
NG_023261.2:g.27850G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.163G>A MANE Select ENSP00000364597.4:p.Gly55Ser
ENST00000375453.5:c.163G>A ENSP00000364602.1:p.Gly55Ser
ENST00000624583.1:c.166+592C>T ENSP00000485570.1:n.166+592C>T
NM_012387.2:c.163G>A NP_036519.2:p.Gly55Ser
XM_011541150.1:c.163G>A XP_011539452.1:p.Gly55Ser
XM_011541151.1:c.163G>A XP_011539453.1:p.Gly55Ser
XM_011541153.1:c.163G>A XP_011539455.1:p.Gly55Ser
XM_011541154.1:c.163G>A XP_011539456.1:p.Gly55Ser
XM_011541155.1:c.163G>A XP_011539457.1:p.Gly55Ser
XM_011541156.1:c.163G>A XP_011539458.1:p.Gly55Ser
XM_011541154.2:c.163G>A XP_011539456.1:p.Gly55Ser
NM_012387.3:c.163G>A MANE Select NP_036519.2:p.Gly55Ser
Search 100 bp 5'
Search 100 bp 3'