Canonical Allele Identifier: CA640657
Gene: PADI4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17342111C>T
GRCh37 chr1:g.17668606C>T
Revel Score:
ENST00000375448 (MANE Select) 0.079
gnomAD v2:
1:17668606 C / T
gnomAD v3:
1:17342111 C / T
gnomAD v4:
chr1-17342111-C-T
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
dbSNP:
41265997
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17342111C>T , CM000663.2:g.17342111C>T GRCh38
NC_000001.10:g.17668606C>T , CM000663.1:g.17668606C>T GRCh37
NC_000001.9:g.17541193C>T NCBI36
NG_023261.2:g.38922C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375448.4:c.821C>T MANE Select ENSP00000364597.4:p.Thr274Met
NM_012387.2:c.821C>T NP_036519.2:p.Thr274Met
XM_011541150.1:c.635C>T XP_011539452.1:p.Thr212Met
XM_011541151.1:c.821C>T XP_011539453.1:p.Thr274Met
XM_011541152.1:c.284C>T XP_011539454.1:p.Thr95Met
XM_011541153.1:c.821C>T XP_011539455.1:p.Thr274Met
XM_011541154.1:c.821C>T XP_011539456.1:p.Thr274Met
XM_011541155.1:c.821C>T XP_011539457.1:p.Thr274Met
XM_011541156.1:c.821C>T XP_011539458.1:p.Thr274Met
XM_011541157.1:c.-60-188C>T XP_011539459.1:n.-60-188C>T
XM_011541154.2:c.821C>T XP_011539456.1:p.Thr274Met
NM_012387.3:c.821C>T MANE Select NP_036519.2:p.Thr274Met
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