Canonical Allele Identifier: CA344578119

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790859G>T , CM000663.2:g.209790859G>T	GRCh38
NC_000001.10:g.209964204G>T , CM000663.1:g.209964204G>T	GRCh37
NC_000001.9:g.208030827G>T	NCBI36
NG_007081.2:g.20276C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006147.4:c.696C>A MANE Select	NP_006138.1:p.Tyr232Ter
ENST00000367021.8:c.696C>A MANE Select	ENSP00000355988.3:p.Tyr232Ter
NM_001206696.1:c.411C>A	NP_001193625.1:p.Tyr137Ter
NM_001206696.2:c.411C>A	NP_001193625.1:p.Tyr137Ter
NM_006147.3:c.696C>A	NP_006138.1:p.Tyr232Ter
ENST00000367021.7:c.696C>A	ENSP00000355988.3:p.Tyr232Ter
ENST00000456314.1:c.696C>A	ENSP00000403855.1:p.Tyr232Ter
ENST00000464698.1:n.475C>A
ENST00000542854.5:c.411C>A	ENSP00000440532.1:p.Tyr137Ter
ENST00000643798.1:c.*206C>A	ENSP00000496669.1:n.*206C>A
ENST00000696133.1:c.696C>A	ENSP00000512426.1:p.Tyr232Ter
ENST00000696134.1:c.*123C>A	ENSP00000512427.1:n.*123C>A