Canonical Allele Identifier: CA2546423031

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788651A>G , CM000663.2:g.209788651A>G	GRCh38
NC_000001.10:g.209961996A>G , CM000663.1:g.209961996A>G	GRCh37
NC_000001.9:g.208028619A>G	NCBI36
NG_007081.2:g.22484T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1180-7T>C	ENSP00000512426.1:n.1180-7T>C
ENST00000696134.1:c.*607-7T>C	ENSP00000512427.1:n.*607-7T>C
ENST00000367021.8:c.1180-7T>C MANE Select	ENSP00000355988.3:n.1180-7T>C
ENST00000643798.1:c.*690-7T>C	ENSP00000496669.1:n.*690-7T>C
ENST00000367021.7:c.1180-7T>C	ENSP00000355988.3:n.1180-7T>C
ENST00000542854.5:c.895-7T>C	ENSP00000440532.1:n.895-7T>C
NM_001206696.1:c.895-7T>C	NP_001193625.1:n.895-7T>C
NM_006147.3:c.1180-7T>C	NP_006138.1:n.1180-7T>C
NM_006147.4:c.1180-7T>C MANE Select	NP_006138.1:n.1180-7T>C
NM_001206696.2:c.895-7T>C	NP_001193625.1:n.895-7T>C