Canonical Allele Identifier: CA344585398

Gene: IRF6

Linked Data

• ClinVar Variation Id: 1043710
• ClinVar RCV Id: RCV001347857
• dbSNP Id: rs2077939791
• MyVariant Identifiers: chr1:g.209974590A>G (hg19) ; chr1:g.209801245A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801245A>G , CM000663.2:g.209801245A>G	GRCh38
NC_000001.10:g.209974590A>G , CM000663.1:g.209974590A>G	GRCh37
NC_000001.9:g.208041213A>G	NCBI36
NG_007081.2:g.9890T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.169T>C	ENSP00000512426.1:p.Phe57Leu
ENST00000696134.1:c.169T>C	ENSP00000512427.1:p.Phe57Leu
ENST00000367021.8:c.169T>C MANE Select	ENSP00000355988.3:p.Phe57Leu
ENST00000643798.1:c.169T>C	ENSP00000496669.1:p.Phe57Leu
ENST00000367021.7:c.169T>C	ENSP00000355988.3:p.Phe57Leu
ENST00000456314.1:c.169T>C	ENSP00000403855.1:p.Phe57Leu
ENST00000542854.5:c.-111-4693T>C	ENSP00000440532.1:n.-111-4693T>C
NM_001206696.1:c.-111-4693T>C	NP_001193625.1:n.-111-4693T>C
NM_006147.3:c.169T>C	NP_006138.1:p.Phe57Leu
NM_006147.4:c.169T>C MANE Select	NP_006138.1:p.Phe57Leu
NM_001206696.2:c.-111-4693T>C	NP_001193625.1:n.-111-4693T>C