Canonical Allele Identifier: CA529000517

Gene: IRF6

Linked Data

• dbSNP Id: rs1201078642
• gnomAD v2: 1-209961763-A-T
• gnomAD v4: 1-209788418-A-T
• MyVariant Identifiers: chr1:g.209961763A>T (hg19) ; chr1:g.209788418A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788418A>T , CM000663.2:g.209788418A>T	GRCh38
NC_000001.10:g.209961763A>T , CM000663.1:g.209961763A>T	GRCh37
NC_000001.9:g.208028386A>T	NCBI36
NG_007081.2:g.22717T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+6T>A	ENSP00000512426.1:n.1400+6T>A
ENST00000696134.1:c.*833T>A	ENSP00000512427.1:n.*833T>A
ENST00000367021.8:c.*2T>A MANE Select	ENSP00000355988.3:n.*2T>A
ENST00000643798.1:c.*916T>A	ENSP00000496669.1:n.*916T>A
ENST00000367021.7:c.*2T>A	ENSP00000355988.3:n.*2T>A
ENST00000542854.5:c.*2T>A	ENSP00000440532.1:n.*2T>A
NM_001206696.1:c.*2T>A	NP_001193625.1:n.*2T>A
NM_006147.3:c.*2T>A	NP_006138.1:n.*2T>A
NM_006147.4:c.*2T>A MANE Select	NP_006138.1:n.*2T>A
NM_001206696.2:c.*2T>A	NP_001193625.1:n.*2T>A