Canonical Allele Identifier: CA344585972

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209974709T>C (hg19) ; chr1:g.209801364T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801364T>C , CM000663.2:g.209801364T>C	GRCh38
NC_000001.10:g.209974709T>C , CM000663.1:g.209974709T>C	GRCh37
NC_000001.9:g.208041332T>C	NCBI36
NG_007081.2:g.9771A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.50A>G	ENSP00000512426.1:p.Gln17Arg
ENST00000696134.1:c.50A>G	ENSP00000512427.1:p.Gln17Arg
ENST00000367021.8:c.50A>G MANE Select	ENSP00000355988.3:p.Gln17Arg
ENST00000643798.1:c.50A>G	ENSP00000496669.1:p.Gln17Arg
ENST00000367021.7:c.50A>G	ENSP00000355988.3:p.Gln17Arg
ENST00000456314.1:c.50A>G	ENSP00000403855.1:p.Gln17Arg
ENST00000542854.5:c.-112+4583A>G	ENSP00000440532.1:n.-112+4583A>G
NM_001206696.1:c.-112+4583A>G	NP_001193625.1:n.-112+4583A>G
NM_006147.3:c.50A>G	NP_006138.1:p.Gln17Arg
NM_006147.4:c.50A>G MANE Select	NP_006138.1:p.Gln17Arg
NM_001206696.2:c.-112+4583A>G	NP_001193625.1:n.-112+4583A>G