Canonical Allele Identifier: CA423026821

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209961975C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788630C>G , CM000663.2:g.209788630C>G	GRCh38
NC_000001.10:g.209961975C>G , CM000663.1:g.209961975C>G	GRCh37
NC_000001.9:g.208028598C>G	NCBI36
NG_007081.2:g.22505G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1194G>C	ENSP00000512426.1:p.Val398=
ENST00000696134.1:c.*621G>C	ENSP00000512427.1:n.*621G>C
ENST00000367021.8:c.1194G>C MANE Select	ENSP00000355988.3:p.Val398=
ENST00000643798.1:c.*704G>C	ENSP00000496669.1:n.*704G>C
ENST00000367021.7:c.1194G>C	ENSP00000355988.3:p.Val398=
ENST00000542854.5:c.909G>C	ENSP00000440532.1:p.Val303=
NM_001206696.1:c.909G>C	NP_001193625.1:p.Val303=
NM_006147.3:c.1194G>C	NP_006138.1:p.Val398=
NM_006147.4:c.1194G>C MANE Select	NP_006138.1:p.Val398=
NM_001206696.2:c.909G>C	NP_001193625.1:p.Val303=