Canonical Allele Identifier: CA344573662

Gene: IRF6

Linked Data

• dbSNP Id: rs2077849343
• MyVariant Identifiers: chr1:g.209961989C>A (hg19) ; chr1:g.209788644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788644C>A , CM000663.2:g.209788644C>A	GRCh38
NC_000001.10:g.209961989C>A , CM000663.1:g.209961989C>A	GRCh37
NC_000001.9:g.208028612C>A	NCBI36
NG_007081.2:g.22491G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1180G>T	ENSP00000512426.1:p.Val394Phe
ENST00000696134.1:c.*607G>T	ENSP00000512427.1:n.*607G>T
ENST00000367021.8:c.1180G>T MANE Select	ENSP00000355988.3:p.Val394Phe
ENST00000643798.1:c.*690G>T	ENSP00000496669.1:n.*690G>T
ENST00000367021.7:c.1180G>T	ENSP00000355988.3:p.Val394Phe
ENST00000542854.5:c.895G>T	ENSP00000440532.1:p.Val299Phe
NM_001206696.1:c.895G>T	NP_001193625.1:p.Val299Phe
NM_006147.3:c.1180G>T	NP_006138.1:p.Val394Phe
NM_006147.4:c.1180G>T MANE Select	NP_006138.1:p.Val394Phe
NM_001206696.2:c.895G>T	NP_001193625.1:p.Val299Phe