Canonical Allele Identifier: CA344582693

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209968760G>C (hg19) ; chr1:g.209795415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209795415G>C , CM000663.2:g.209795415G>C	GRCh38
NC_000001.10:g.209968760G>C , CM000663.1:g.209968760G>C	GRCh37
NC_000001.9:g.208035383G>C	NCBI36
NG_007081.2:g.15720C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.383C>G	ENSP00000512426.1:p.Ser128Cys
ENST00000696134.1:c.383C>G	ENSP00000512427.1:p.Ser128Cys
ENST00000367021.8:c.383C>G MANE Select	ENSP00000355988.3:p.Ser128Cys
ENST00000643798.1:c.383C>G	ENSP00000496669.1:p.Ser128Cys
ENST00000367021.7:c.383C>G	ENSP00000355988.3:p.Ser128Cys
ENST00000456314.1:c.383C>G	ENSP00000403855.1:p.Ser128Cys
ENST00000542854.5:c.98C>G	ENSP00000440532.1:p.Ser33Cys
NM_001206696.1:c.98C>G	NP_001193625.1:p.Ser33Cys
NM_006147.3:c.383C>G	NP_006138.1:p.Ser128Cys
NM_006147.4:c.383C>G MANE Select	NP_006138.1:p.Ser128Cys
NM_001206696.2:c.98C>G	NP_001193625.1:p.Ser33Cys