Canonical Allele Identifier: CA1377270

Gene: IRF6

Linked Data

• dbSNP Id: rs761051343
• ExAC: 1:209965589 G / C
• gnomAD v2: 1-209965589-G-C
• gnomAD v4: 1-209792244-G-C
• MyVariant Identifiers: chr1:g.209965589G>C (hg19) ; chr1:g.209792244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209792244G>C , CM000663.2:g.209792244G>C	GRCh38
NC_000001.10:g.209965589G>C , CM000663.1:g.209965589G>C	GRCh37
NC_000001.9:g.208032212G>C	NCBI36
NG_007081.2:g.18891C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.667+25C>G	ENSP00000512426.1:n.667+25C>G
ENST00000696134.1:c.667+25C>G	ENSP00000512427.1:n.667+25C>G
ENST00000367021.8:c.667+25C>G MANE Select	ENSP00000355988.3:n.667+25C>G
ENST00000643798.1:c.*177+25C>G	ENSP00000496669.1:n.*177+25C>G
ENST00000367021.7:c.667+25C>G	ENSP00000355988.3:n.667+25C>G
ENST00000456314.1:c.667+25C>G	ENSP00000403855.1:n.667+25C>G
ENST00000464698.1:n.446+25C>G
ENST00000542854.5:c.382+25C>G	ENSP00000440532.1:n.382+25C>G
NM_001206696.1:c.382+25C>G	NP_001193625.1:n.382+25C>G
NM_006147.3:c.667+25C>G	NP_006138.1:n.667+25C>G
NM_006147.4:c.667+25C>G MANE Select	NP_006138.1:n.667+25C>G
NM_001206696.2:c.382+25C>G	NP_001193625.1:n.382+25C>G