Canonical Allele Identifier: CA1377327

Gene: IRF6

Linked Data

• dbSNP Id: rs745893677
• ExAC: 1:209968699 A / T
• gnomAD v2: 1-209968699-A-T
• MyVariant Identifiers: chr1:g.209968699A>T (hg19) ; chr1:g.209795354A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209795354A>T , CM000663.2:g.209795354A>T	GRCh38
NC_000001.10:g.209968699A>T , CM000663.1:g.209968699A>T	GRCh37
NC_000001.9:g.208035322A>T	NCBI36
NG_007081.2:g.15781T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.444T>A	ENSP00000512426.1:p.Asp148Glu
ENST00000696134.1:c.444T>A	ENSP00000512427.1:p.Asp148Glu
ENST00000367021.8:c.444T>A MANE Select	ENSP00000355988.3:p.Asp148Glu
ENST00000643798.1:c.444T>A	ENSP00000496669.1:p.Asp148Glu
ENST00000367021.7:c.444T>A	ENSP00000355988.3:p.Asp148Glu
ENST00000456314.1:c.444T>A	ENSP00000403855.1:p.Asp148Glu
ENST00000542854.5:c.159T>A	ENSP00000440532.1:p.Asp53Glu
NM_001206696.1:c.159T>A	NP_001193625.1:p.Asp53Glu
NM_006147.3:c.444T>A	NP_006138.1:p.Asp148Glu
NM_006147.4:c.444T>A MANE Select	NP_006138.1:p.Asp148Glu
NM_001206696.2:c.159T>A	NP_001193625.1:p.Asp53Glu