Canonical Allele Identifier: CA423143243

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209963895G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790550G>A , CM000663.2:g.209790550G>A	GRCh38
NC_000001.10:g.209963895G>A , CM000663.1:g.209963895G>A	GRCh37
NC_000001.9:g.208030518G>A	NCBI36
NG_007081.2:g.20585C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1005C>T	ENSP00000512426.1:p.Asn335=
ENST00000696134.1:c.*432C>T	ENSP00000512427.1:n.*432C>T
ENST00000367021.8:c.1005C>T MANE Select	ENSP00000355988.3:p.Asn335=
ENST00000643798.1:c.*515C>T	ENSP00000496669.1:n.*515C>T
ENST00000367021.7:c.1005C>T	ENSP00000355988.3:p.Asn335=
ENST00000542854.5:c.720C>T	ENSP00000440532.1:p.Asn240=
NM_001206696.1:c.720C>T	NP_001193625.1:p.Asn240=
NM_006147.3:c.1005C>T	NP_006138.1:p.Asn335=
NM_006147.4:c.1005C>T MANE Select	NP_006138.1:p.Asn335=
NM_001206696.2:c.720C>T	NP_001193625.1:p.Asn240=