Canonical Allele Identifier: CA1377237

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790667G>A , CM000663.2:g.209790667G>A	GRCh38
NC_000001.10:g.209964012G>A , CM000663.1:g.209964012G>A	GRCh37
NC_000001.9:g.208030635G>A	NCBI36
NG_007081.2:g.20468C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.888C>T MANE Select	NP_006138.1:p.Asp296=
ENST00000367021.8:c.888C>T MANE Select	ENSP00000355988.3:p.Asp296=
NM_001206696.1:c.603C>T	NP_001193625.1:p.Asp201=
NM_001206696.2:c.603C>T	NP_001193625.1:p.Asp201=
NM_006147.3:c.888C>T	NP_006138.1:p.Asp296=
ENST00000367021.7:c.888C>T	ENSP00000355988.3:p.Asp296=
ENST00000542854.5:c.603C>T	ENSP00000440532.1:p.Asp201=
ENST00000643798.1:c.*398C>T	ENSP00000496669.1:n.*398C>T
ENST00000696133.1:c.888C>T	ENSP00000512426.1:p.Asp296=
ENST00000696134.1:c.*315C>T	ENSP00000512427.1:n.*315C>T