Canonical Allele Identifier: CA344572972

Gene: IRF6

Linked Data

• dbSNP Id: rs1413709711
• gnomAD v2: 1-209961878-T-C
• gnomAD v3: 1-209788533-T-C
• gnomAD v4: 1-209788533-T-C
• MyVariant Identifiers: chr1:g.209961878T>C (hg19) ; chr1:g.209788533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788533T>C , CM000663.2:g.209788533T>C	GRCh38
NC_000001.10:g.209961878T>C , CM000663.1:g.209961878T>C	GRCh37
NC_000001.9:g.208028501T>C	NCBI36
NG_007081.2:g.22602A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1291A>G	ENSP00000512426.1:p.Asn431Asp
ENST00000696134.1:c.*718A>G	ENSP00000512427.1:n.*718A>G
ENST00000367021.8:c.1291A>G MANE Select	ENSP00000355988.3:p.Asn431Asp
ENST00000643798.1:c.*801A>G	ENSP00000496669.1:n.*801A>G
ENST00000367021.7:c.1291A>G	ENSP00000355988.3:p.Asn431Asp
ENST00000542854.5:c.1006A>G	ENSP00000440532.1:p.Asn336Asp
NM_001206696.1:c.1006A>G	NP_001193625.1:p.Asn336Asp
NM_006147.3:c.1291A>G	NP_006138.1:p.Asn431Asp
NM_006147.4:c.1291A>G MANE Select	NP_006138.1:p.Asn431Asp
NM_001206696.2:c.1006A>G	NP_001193625.1:p.Asn336Asp