Canonical Allele Identifier: CA1377150

Gene: IRF6

Linked Data

• dbSNP Id: rs752456527
• ExAC: 1:209961874 A / G
• gnomAD v2: 1-209961874-A-G
• gnomAD v4: 1-209788529-A-G
• MyVariant Identifiers: chr1:g.209961874A>G (hg19) ; chr1:g.209788529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788529A>G , CM000663.2:g.209788529A>G	GRCh38
NC_000001.10:g.209961874A>G , CM000663.1:g.209961874A>G	GRCh37
NC_000001.9:g.208028497A>G	NCBI36
NG_007081.2:g.22606T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1295T>C	ENSP00000512426.1:p.Ile432Thr
ENST00000696134.1:c.*722T>C	ENSP00000512427.1:n.*722T>C
ENST00000367021.8:c.1295T>C MANE Select	ENSP00000355988.3:p.Ile432Thr
ENST00000643798.1:c.*805T>C	ENSP00000496669.1:n.*805T>C
ENST00000367021.7:c.1295T>C	ENSP00000355988.3:p.Ile432Thr
ENST00000542854.5:c.1010T>C	ENSP00000440532.1:p.Ile337Thr
NM_001206696.1:c.1010T>C	NP_001193625.1:p.Ile337Thr
NM_006147.3:c.1295T>C	NP_006138.1:p.Ile432Thr
NM_006147.4:c.1295T>C MANE Select	NP_006138.1:p.Ile432Thr
NM_001206696.2:c.1010T>C	NP_001193625.1:p.Ile337Thr