Canonical Allele Identifier: CA344573048

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209961887T>A (hg19) ; chr1:g.209788542T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788542T>A , CM000663.2:g.209788542T>A	GRCh38
NC_000001.10:g.209961887T>A , CM000663.1:g.209961887T>A	GRCh37
NC_000001.9:g.208028510T>A	NCBI36
NG_007081.2:g.22593A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1282A>T	ENSP00000512426.1:p.Ile428Phe
ENST00000696134.1:c.*709A>T	ENSP00000512427.1:n.*709A>T
ENST00000367021.8:c.1282A>T MANE Select	ENSP00000355988.3:p.Ile428Phe
ENST00000643798.1:c.*792A>T	ENSP00000496669.1:n.*792A>T
ENST00000367021.7:c.1282A>T	ENSP00000355988.3:p.Ile428Phe
ENST00000542854.5:c.997A>T	ENSP00000440532.1:p.Ile333Phe
NM_001206696.1:c.997A>T	NP_001193625.1:p.Ile333Phe
NM_006147.3:c.1282A>T	NP_006138.1:p.Ile428Phe
NM_006147.4:c.1282A>T MANE Select	NP_006138.1:p.Ile428Phe
NM_001206696.2:c.997A>T	NP_001193625.1:p.Ile333Phe