Canonical Allele Identifier: CA344573143

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788556A>C , CM000663.2:g.209788556A>C	GRCh38
NC_000001.10:g.209961901A>C , CM000663.1:g.209961901A>C	GRCh37
NC_000001.9:g.208028524A>C	NCBI36
NG_007081.2:g.22579T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.1268T>G MANE Select	NP_006138.1:p.Ile423Ser
ENST00000367021.8:c.1268T>G MANE Select	ENSP00000355988.3:p.Ile423Ser
NM_001206696.1:c.983T>G	NP_001193625.1:p.Ile328Ser
NM_001206696.2:c.983T>G	NP_001193625.1:p.Ile328Ser
NM_006147.3:c.1268T>G	NP_006138.1:p.Ile423Ser
ENST00000367021.7:c.1268T>G	ENSP00000355988.3:p.Ile423Ser
ENST00000542854.5:c.983T>G	ENSP00000440532.1:p.Ile328Ser
ENST00000643798.1:c.*778T>G	ENSP00000496669.1:n.*778T>G
ENST00000696133.1:c.1268T>G	ENSP00000512426.1:p.Ile423Ser
ENST00000696134.1:c.*695T>G	ENSP00000512427.1:n.*695T>G