Canonical Allele Identifier: CA528646482

Gene: IRF6

Linked Data

• dbSNP Id: rs1438040371
• gnomAD v2: 1-209974539-A-G
• gnomAD v4: 1-209801194-A-G
• MyVariant Identifiers: chr1:g.209974539A>G (hg19) ; chr1:g.209801194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801194A>G , CM000663.2:g.209801194A>G	GRCh38
NC_000001.10:g.209974539A>G , CM000663.1:g.209974539A>G	GRCh37
NC_000001.9:g.208041162A>G	NCBI36
NG_007081.2:g.9941T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.174+46T>C	ENSP00000512426.1:n.174+46T>C
ENST00000696134.1:c.174+46T>C	ENSP00000512427.1:n.174+46T>C
ENST00000367021.8:c.174+46T>C MANE Select	ENSP00000355988.3:n.174+46T>C
ENST00000643798.1:c.174+46T>C	ENSP00000496669.1:n.174+46T>C
ENST00000367021.7:c.174+46T>C	ENSP00000355988.3:n.174+46T>C
ENST00000456314.1:c.174+46T>C	ENSP00000403855.1:n.174+46T>C
ENST00000542854.5:c.-111-4642T>C	ENSP00000440532.1:n.-111-4642T>C
NM_001206696.1:c.-111-4642T>C	NP_001193625.1:n.-111-4642T>C
NM_006147.3:c.174+46T>C	NP_006138.1:n.174+46T>C
NM_006147.4:c.174+46T>C MANE Select	NP_006138.1:n.174+46T>C
NM_001206696.2:c.-111-4642T>C	NP_001193625.1:n.-111-4642T>C