Canonical Allele Identifier: CA1144229117

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788553G= , CM000663.2:g.209788553G=	GRCh38
NC_000001.10:g.209961898G= , CM000663.1:g.209961898G=	GRCh37
NC_000001.9:g.208028521G=	NCBI36
NG_007081.2:g.22582C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.1271C= MANE Select	NP_006138.1:p.Ser424=
ENST00000367021.8:c.1271C= MANE Select	ENSP00000355988.3:p.Ser424=
NM_001206696.1:c.986C=	NP_001193625.1:p.Ser329=
NM_001206696.2:c.986C=	NP_001193625.1:p.Ser329=
NM_006147.3:c.1271C=	NP_006138.1:p.Ser424=
ENST00000367021.7:c.1271C=	ENSP00000355988.3:p.Ser424=
ENST00000542854.5:c.986C=	ENSP00000440532.1:p.Ser329=
ENST00000643798.1:c.*781C=	ENSP00000496669.1:n.*781C=
ENST00000696133.1:c.1271C=	ENSP00000512426.1:p.Ser424=
ENST00000696134.1:c.*698C=	ENSP00000512427.1:n.*698C=