Canonical Allele Identifier: CA344572580

Gene: IRF6

Linked Data

• MyVariant Identifiers: chr1:g.209961790A>C (hg19) ; chr1:g.209788445A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788445A>C , CM000663.2:g.209788445A>C	GRCh38
NC_000001.10:g.209961790A>C , CM000663.1:g.209961790A>C	GRCh37
NC_000001.9:g.208028413A>C	NCBI36
NG_007081.2:g.22690T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1379T>G	ENSP00000512426.1:p.Leu460Arg
ENST00000696134.1:c.*806T>G	ENSP00000512427.1:n.*806T>G
ENST00000367021.8:c.1379T>G MANE Select	ENSP00000355988.3:p.Leu460Arg
ENST00000643798.1:c.*889T>G	ENSP00000496669.1:n.*889T>G
ENST00000367021.7:c.1379T>G	ENSP00000355988.3:p.Leu460Arg
ENST00000542854.5:c.1094T>G	ENSP00000440532.1:p.Leu365Arg
NM_001206696.1:c.1094T>G	NP_001193625.1:p.Leu365Arg
NM_006147.3:c.1379T>G	NP_006138.1:p.Leu460Arg
NM_006147.4:c.1379T>G MANE Select	NP_006138.1:p.Leu460Arg
NM_001206696.2:c.1094T>G	NP_001193625.1:p.Leu365Arg