Canonical Allele Identifier: CA730857326

Gene: IRF6

Linked Data

• dbSNP Id: rs1257906740
• gnomAD v3: 1-209794999-A-C
• gnomAD v4: 1-209794999-A-C
• MyVariant Identifiers: chr1:g.209968344A>C (hg19) ; chr1:g.209794999A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209794999A>C , CM000663.2:g.209794999A>C	GRCh38
NC_000001.10:g.209968344A>C , CM000663.1:g.209968344A>C	GRCh37
NC_000001.9:g.208034967A>C	NCBI36
NG_007081.2:g.16136T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.508+291T>G	ENSP00000512426.1:n.508+291T>G
ENST00000696134.1:c.508+291T>G	ENSP00000512427.1:n.508+291T>G
ENST00000367021.8:c.508+291T>G MANE Select	ENSP00000355988.3:n.508+291T>G
ENST00000643798.1:c.508+291T>G	ENSP00000496669.1:n.508+291T>G
ENST00000367021.7:c.508+291T>G	ENSP00000355988.3:n.508+291T>G
ENST00000456314.1:c.508+291T>G	ENSP00000403855.1:n.508+291T>G
ENST00000542854.5:c.223+291T>G	ENSP00000440532.1:n.223+291T>G
NM_001206696.1:c.223+291T>G	NP_001193625.1:n.223+291T>G
NM_006147.3:c.508+291T>G	NP_006138.1:n.508+291T>G
NM_006147.4:c.508+291T>G MANE Select	NP_006138.1:n.508+291T>G
NM_001206696.2:c.223+291T>G	NP_001193625.1:n.223+291T>G