Canonical Allele Identifier: CA640381
Gene: PADI4 HGNC NCBI
COSMIC:
COSM3746671 (not active)
MyVariant.info:
GRCh38 chr1:g.17331121T>C
GRCh37 chr1:g.17657616T>C
Revel Score:
ENST00000375453 0.103
ENST00000358829 0.103
ENST00000375448 (MANE Select) 0.103
gnomAD v2:
1:17657616 T / C
gnomAD v3:
1:17331121 T / C
gnomAD v4:
chr1-17331121-T-C
Joint Max Group AF 0.58676444 (EAS)
Genomes Max Group AF 0.57892353 (NFE)
Exomes Max Group AF 0.58657962 (EAS)
ClinVar RCV:
RCV001249180
RCV003973163
ClinVar Variation:
972893
dbSNP:
11203367
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17331121T>C , CM000663.2:g.17331121T>C GRCh38
NC_000001.10:g.17657616T>C , CM000663.1:g.17657616T>C GRCh37
NC_000001.9:g.17530203T>C NCBI36
NG_023261.2:g.27932T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.245T>C MANE Select ENSP00000364597.4:p.Val82Ala
ENST00000375453.5:c.245T>C ENSP00000364602.1:p.Val82Ala
ENST00000624583.1:c.166+510A>G ENSP00000485570.1:n.166+510A>G
NM_012387.2:c.245T>C NP_036519.2:p.Val82Ala
XM_011541150.1:c.245T>C XP_011539452.1:p.Val82Ala
XM_011541151.1:c.245T>C XP_011539453.1:p.Val82Ala
XM_011541153.1:c.245T>C XP_011539455.1:p.Val82Ala
XM_011541154.1:c.245T>C XP_011539456.1:p.Val82Ala
XM_011541155.1:c.245T>C XP_011539457.1:p.Val82Ala
XM_011541156.1:c.245T>C XP_011539458.1:p.Val82Ala
XM_011541154.2:c.245T>C XP_011539456.1:p.Val82Ala
NM_012387.3:c.245T>C MANE Select NP_036519.2:p.Val82Ala
Search 100 bp 5'
Search 100 bp 3'