Canonical Allele Identifier: CA344583427

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209796492A>G , CM000663.2:g.209796492A>G	GRCh38
NC_000001.10:g.209969837A>G , CM000663.1:g.209969837A>G	GRCh37
NC_000001.9:g.208036460A>G	NCBI36
NG_007081.2:g.14643T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.235T>C MANE Select	NP_006138.1:p.Trp79Arg
ENST00000367021.8:c.235T>C MANE Select	ENSP00000355988.3:p.Trp79Arg
NM_001206696.1:c.-51T>C	NP_001193625.1:n.-51T>C
NM_001206696.2:c.-51T>C	NP_001193625.1:n.-51T>C
NM_006147.3:c.235T>C	NP_006138.1:p.Trp79Arg
ENST00000367021.7:c.235T>C	ENSP00000355988.3:p.Trp79Arg
ENST00000456314.1:c.235T>C	ENSP00000403855.1:p.Trp79Arg
ENST00000542854.5:c.-51T>C	ENSP00000440532.1:n.-51T>C
ENST00000643798.1:c.235T>C	ENSP00000496669.1:p.Trp79Arg
ENST00000696133.1:c.235T>C	ENSP00000512426.1:p.Trp79Arg
ENST00000696134.1:c.235T>C	ENSP00000512427.1:p.Trp79Arg