Canonical Allele Identifier: CA344582862

Gene: IRF6

Linked Data

• gnomAD v4: 1-209796384-C-A
• COSMIC: COSM6123881
• MyVariant Identifiers: chr1:g.209969729C>A (hg19) ; chr1:g.209796384C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209796384C>A , CM000663.2:g.209796384C>A	GRCh38
NC_000001.10:g.209969729C>A , CM000663.1:g.209969729C>A	GRCh37
NC_000001.9:g.208036352C>A	NCBI36
NG_007081.2:g.14751G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.343G>T	ENSP00000512426.1:p.Asp115Tyr
ENST00000696134.1:c.343G>T	ENSP00000512427.1:p.Asp115Tyr
ENST00000367021.8:c.343G>T MANE Select	ENSP00000355988.3:p.Asp115Tyr
ENST00000643798.1:c.343G>T	ENSP00000496669.1:p.Asp115Tyr
ENST00000367021.7:c.343G>T	ENSP00000355988.3:p.Asp115Tyr
ENST00000456314.1:c.343G>T	ENSP00000403855.1:p.Asp115Tyr
ENST00000542854.5:c.58G>T	ENSP00000440532.1:p.Asp20Tyr
NM_001206696.1:c.58G>T	NP_001193625.1:p.Asp20Tyr
NM_006147.3:c.343G>T	NP_006138.1:p.Asp115Tyr
NM_006147.4:c.343G>T MANE Select	NP_006138.1:p.Asp115Tyr
NM_001206696.2:c.58G>T	NP_001193625.1:p.Asp20Tyr