Canonical Allele Identifier: CA640416
Gene: PADI4 HGNC NCBI
COSMIC:
COSM3746672 (not active)
COSM6424062 (not active)
MyVariant.info:
GRCh38 chr1:g.17334004G>C
GRCh37 chr1:g.17660499G>C
Revel Score:
ENST00000375453 0.087
ENST00000358829 0.087
ENST00000375448 (MANE Select) 0.087
gnomAD v2:
1:17660499 G / C
gnomAD v3:
1:17334004 G / C
gnomAD v4:
chr1-17334004-G-C
Joint Max Group AF 0.58607444 (EAS)
Genomes Max Group AF 0.57262211 (EAS)
Exomes Max Group AF 0.58594229 (EAS)
ClinVar RCV:
RCV001249182
RCV003973164
ClinVar Variation:
972895
dbSNP:
874881
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17334004G>C , CM000663.2:g.17334004G>C GRCh38
NC_000001.10:g.17660499G>C , CM000663.1:g.17660499G>C GRCh37
NC_000001.9:g.17533086G>C NCBI36
NG_023261.2:g.30815G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.335G>C MANE Select ENSP00000364597.4:p.Gly112Ala
ENST00000375453.5:c.335G>C ENSP00000364602.1:p.Gly112Ala
NM_012387.2:c.335G>C NP_036519.2:p.Gly112Ala
XM_011541150.1:c.335G>C XP_011539452.1:p.Gly112Ala
XM_011541151.1:c.335G>C XP_011539453.1:p.Gly112Ala
XM_011541152.1:c.-85G>C XP_011539454.1:n.-85G>C
XM_011541153.1:c.335G>C XP_011539455.1:p.Gly112Ala
XM_011541154.1:c.335G>C XP_011539456.1:p.Gly112Ala
XM_011541155.1:c.335G>C XP_011539457.1:p.Gly112Ala
XM_011541156.1:c.335G>C XP_011539458.1:p.Gly112Ala
XM_011541157.1:c.-378G>C XP_011539459.1:n.-378G>C
XM_011541154.2:c.335G>C XP_011539456.1:p.Gly112Ala
NM_012387.3:c.335G>C MANE Select NP_036519.2:p.Gly112Ala
Search 100 bp 5'
Search 100 bp 3'