Canonical Allele Identifier: CA338234141
Gene: PADI4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2391645
ClinVar RCV Id: RCV004230001
dbSNP Id: rs1170553721
gnomAD v2: 1-17660456-G-A
gnomAD v3: 1-17333961-G-A
gnomAD v4: 1-17333961-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17333961G>A , CM000663.2:g.17333961G>A GRCh38
NC_000001.10:g.17660456G>A , CM000663.1:g.17660456G>A GRCh37
NC_000001.9:g.17533043G>A NCBI36
NG_023261.2:g.30772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.292G>A MANE Select ENSP00000364597.4:p.Gly98Arg
ENST00000375453.5:c.292G>A ENSP00000364602.1:p.Gly98Arg
NM_012387.2:c.292G>A NP_036519.2:p.Gly98Arg
XM_011541150.1:c.292G>A XP_011539452.1:p.Gly98Arg
XM_011541151.1:c.292G>A XP_011539453.1:p.Gly98Arg
XM_011541153.1:c.292G>A XP_011539455.1:p.Gly98Arg
XM_011541154.1:c.292G>A XP_011539456.1:p.Gly98Arg
XM_011541155.1:c.292G>A XP_011539457.1:p.Gly98Arg
XM_011541156.1:c.292G>A XP_011539458.1:p.Gly98Arg
XM_011541154.2:c.292G>A XP_011539456.1:p.Gly98Arg
NM_012387.3:c.292G>A MANE Select NP_036519.2:p.Gly98Arg