Canonical Allele Identifier: CA344583339
Community Standard Title: NM_006147.4(IRF6):c.250C>A (p.Arg84Ser)
Gene: IRF6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209796477G>T , CM000663.2:g.209796477G>T GRCh38
NC_000001.10:g.209969822G>T , CM000663.1:g.209969822G>T GRCh37
NC_000001.9:g.208036445G>T NCBI36
NG_007081.2:g.14658C>A

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.250C>A MANE Select NP_006138.1:p.Arg84Ser
ENST00000367021.8:c.250C>A MANE Select ENSP00000355988.3:p.Arg84Ser
NM_001206696.1:c.-36C>A NP_001193625.1:n.-36C>A
NM_001206696.2:c.-36C>A NP_001193625.1:n.-36C>A
NM_006147.3:c.250C>A NP_006138.1:p.Arg84Ser
ENST00000367021.7:c.250C>A ENSP00000355988.3:p.Arg84Ser
ENST00000456314.1:c.250C>A ENSP00000403855.1:p.Arg84Ser
ENST00000542854.5:c.-36C>A ENSP00000440532.1:n.-36C>A
ENST00000643798.1:c.250C>A ENSP00000496669.1:p.Arg84Ser
ENST00000696133.1:c.250C>A ENSP00000512426.1:p.Arg84Ser
ENST00000696134.1:c.250C>A ENSP00000512427.1:p.Arg84Ser
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