Canonical Allele Identifier: CA423143239

Gene: IRF6

Linked Data

• gnomAD v4: 1-209790549-G-A
• MyVariant Identifiers: chr1:g.209963894G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790549G>A , CM000663.2:g.209790549G>A	GRCh38
NC_000001.10:g.209963894G>A , CM000663.1:g.209963894G>A	GRCh37
NC_000001.9:g.208030517G>A	NCBI36
NG_007081.2:g.20586C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1006C>T	ENSP00000512426.1:p.Leu336=
ENST00000696134.1:c.*433C>T	ENSP00000512427.1:n.*433C>T
ENST00000367021.8:c.1006C>T MANE Select	ENSP00000355988.3:p.Leu336=
ENST00000643798.1:c.*516C>T	ENSP00000496669.1:n.*516C>T
ENST00000367021.7:c.1006C>T	ENSP00000355988.3:p.Leu336=
ENST00000542854.5:c.721C>T	ENSP00000440532.1:p.Leu241=
NM_001206696.1:c.721C>T	NP_001193625.1:p.Leu241=
NM_006147.3:c.1006C>T	NP_006138.1:p.Leu336=
NM_006147.4:c.1006C>T MANE Select	NP_006138.1:p.Leu336=
NM_001206696.2:c.721C>T	NP_001193625.1:p.Leu241=