Canonical Allele Identifier: CA344575261

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209963885T>A (hg19) ; chr1:g.209790540T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790540T>A , CM000663.2:g.209790540T>A	GRCh38
NC_000001.10:g.209963885T>A , CM000663.1:g.209963885T>A	GRCh37
NC_000001.9:g.208030508T>A	NCBI36
NG_007081.2:g.20595A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1015A>T	ENSP00000512426.1:p.Arg339Ter
ENST00000696134.1:c.*442A>T	ENSP00000512427.1:n.*442A>T
ENST00000367021.8:c.1015A>T MANE Select	ENSP00000355988.3:p.Arg339Ter
ENST00000643798.1:c.*525A>T	ENSP00000496669.1:n.*525A>T
ENST00000367021.7:c.1015A>T	ENSP00000355988.3:p.Arg339Ter
ENST00000542854.5:c.730A>T	ENSP00000440532.1:p.Arg244Ter
NM_001206696.1:c.730A>T	NP_001193625.1:p.Arg244Ter
NM_006147.3:c.1015A>T	NP_006138.1:p.Arg339Ter
NM_006147.4:c.1015A>T MANE Select	NP_006138.1:p.Arg339Ter
NM_001206696.2:c.730A>T	NP_001193625.1:p.Arg244Ter