Canonical Allele Identifier: CA259876

Gene: IRF6

Linked Data

• ClinVar Variation Id: 30653
• ClinVar RCV Id: RCV000023630
• dbSNP Id: rs121434227
• MyVariant Identifiers: chr1:g.209969821C>A (hg19) ; chr1:g.209796476C>A (hg38)
• PubMed: PMID:12219090 ; PMID:20803643

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209796476C>A , CM000663.2:g.209796476C>A	GRCh38
NC_000001.10:g.209969821C>A , CM000663.1:g.209969821C>A	GRCh37
NC_000001.9:g.208036444C>A	NCBI36
NG_007081.2:g.14659G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.251G>T	ENSP00000512426.1:p.Arg84Leu
ENST00000696134.1:c.251G>T	ENSP00000512427.1:p.Arg84Leu
ENST00000367021.8:c.251G>T MANE Select	ENSP00000355988.3:p.Arg84Leu
ENST00000643798.1:c.251G>T	ENSP00000496669.1:p.Arg84Leu
ENST00000367021.7:c.251G>T	ENSP00000355988.3:p.Arg84Leu
ENST00000456314.1:c.251G>T	ENSP00000403855.1:p.Arg84Leu
ENST00000542854.5:c.-35G>T	ENSP00000440532.1:n.-35G>T
NM_001206696.1:c.-35G>T	NP_001193625.1:n.-35G>T
NM_006147.3:c.251G>T	NP_006138.1:p.Arg84Leu
NM_006147.4:c.251G>T MANE Select	NP_006138.1:p.Arg84Leu
NM_001206696.2:c.-35G>T	NP_001193625.1:n.-35G>T