Canonical Allele Identifier: CA640708
Gene: PADI4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17342393A>G
GRCh37 chr1:g.17668888A>G
Revel Score:
ENST00000375448 (MANE Select) 0.238
gnomAD v2:
1:17668888 A / G
gnomAD v3:
1:17342393 A / G
gnomAD v4:
chr1-17342393-A-G
Joint Max Group AF 0.01712299 (MID)
Genomes Max Group AF 0.01003124 (NFE)
Exomes Max Group AF 0.01719412 (MID)
ClinVar RCV:
RCV000954063
ClinVar Variation:
774152
dbSNP:
33981382
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17342393A>G , CM000663.2:g.17342393A>G GRCh38
NC_000001.10:g.17668888A>G , CM000663.1:g.17668888A>G GRCh37
NC_000001.9:g.17541475A>G NCBI36
NG_023261.2:g.39204A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.926A>G MANE Select ENSP00000364597.4:p.Tyr309Cys
NM_012387.2:c.926A>G NP_036519.2:p.Tyr309Cys
XM_011541150.1:c.740A>G XP_011539452.1:p.Tyr247Cys
XM_011541151.1:c.926A>G XP_011539453.1:p.Tyr309Cys
XM_011541152.1:c.389A>G XP_011539454.1:p.Tyr130Cys
XM_011541153.1:c.926A>G XP_011539455.1:p.Tyr309Cys
XM_011541154.1:c.926A>G XP_011539456.1:p.Tyr309Cys
XM_011541155.1:c.926A>G XP_011539457.1:p.Tyr309Cys
XM_011541156.1:c.926A>G XP_011539458.1:p.Tyr309Cys
XM_011541157.1:c.35A>G XP_011539459.1:p.Tyr12Cys
XM_011541154.2:c.926A>G XP_011539456.1:p.Tyr309Cys
NM_012387.3:c.926A>G MANE Select NP_036519.2:p.Tyr309Cys
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