Canonical Allele Identifier: CA1377333

Gene: IRF6

Linked Data

• dbSNP Id: rs761427808
• ExAC: 1:209968739 T / C
• gnomAD v2: 1-209968739-T-C
• gnomAD v3: 1-209795394-T-C
• gnomAD v4: 1-209795394-T-C
• MyVariant Identifiers: chr1:g.209968739T>C (hg19) ; chr1:g.209795394T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209795394T>C , CM000663.2:g.209795394T>C	GRCh38
NC_000001.10:g.209968739T>C , CM000663.1:g.209968739T>C	GRCh37
NC_000001.9:g.208035362T>C	NCBI36
NG_007081.2:g.15741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.404A>G	ENSP00000512426.1:p.Asp135Gly
ENST00000696134.1:c.404A>G	ENSP00000512427.1:p.Asp135Gly
ENST00000367021.8:c.404A>G MANE Select	ENSP00000355988.3:p.Asp135Gly
ENST00000643798.1:c.404A>G	ENSP00000496669.1:p.Asp135Gly
ENST00000367021.7:c.404A>G	ENSP00000355988.3:p.Asp135Gly
ENST00000456314.1:c.404A>G	ENSP00000403855.1:p.Asp135Gly
ENST00000542854.5:c.119A>G	ENSP00000440532.1:p.Asp40Gly
NM_001206696.1:c.119A>G	NP_001193625.1:p.Asp40Gly
NM_006147.3:c.404A>G	NP_006138.1:p.Asp135Gly
NM_006147.4:c.404A>G MANE Select	NP_006138.1:p.Asp135Gly
NM_001206696.2:c.119A>G	NP_001193625.1:p.Asp40Gly