Canonical Allele Identifier: CA528646044

Gene: IRF6

Linked Data

• dbSNP Id: rs1250615266
• gnomAD v2: 1-209968604-T-A
• gnomAD v4: 1-209795259-T-A
• MyVariant Identifiers: chr1:g.209968604T>A (hg19) ; chr1:g.209795259T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209795259T>A , CM000663.2:g.209795259T>A	GRCh38
NC_000001.10:g.209968604T>A , CM000663.1:g.209968604T>A	GRCh37
NC_000001.9:g.208035227T>A	NCBI36
NG_007081.2:g.15876A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.508+31A>T	ENSP00000512426.1:n.508+31A>T
ENST00000696134.1:c.508+31A>T	ENSP00000512427.1:n.508+31A>T
ENST00000367021.8:c.508+31A>T MANE Select	ENSP00000355988.3:n.508+31A>T
ENST00000643798.1:c.508+31A>T	ENSP00000496669.1:n.508+31A>T
ENST00000367021.7:c.508+31A>T	ENSP00000355988.3:n.508+31A>T
ENST00000456314.1:c.508+31A>T	ENSP00000403855.1:n.508+31A>T
ENST00000542854.5:c.223+31A>T	ENSP00000440532.1:n.223+31A>T
NM_001206696.1:c.223+31A>T	NP_001193625.1:n.223+31A>T
NM_006147.3:c.508+31A>T	NP_006138.1:n.508+31A>T
NM_006147.4:c.508+31A>T MANE Select	NP_006138.1:n.508+31A>T
NM_001206696.2:c.223+31A>T	NP_001193625.1:n.223+31A>T