Canonical Allele Identifier: CA261244

Gene: IRF6

Linked Data

• ClinVar Variation Id: 40077
• ClinVar RCV Id: RCV000033164 ; RCV001037238
• dbSNP Id: rs397515434
• MyVariant Identifiers: chr1:g.209974614G>A (hg19) ; chr1:g.209801269G>A (hg38)
• PubMed: PMID:19842205

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801269G>A , CM000663.2:g.209801269G>A	GRCh38
NC_000001.10:g.209974614G>A , CM000663.1:g.209974614G>A	GRCh37
NC_000001.9:g.208041237G>A	NCBI36
NG_007081.2:g.9866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.145C>T	ENSP00000512426.1:p.Gln49Ter
ENST00000696134.1:c.145C>T	ENSP00000512427.1:p.Gln49Ter
ENST00000367021.8:c.145C>T MANE Select	ENSP00000355988.3:p.Gln49Ter
ENST00000643798.1:c.145C>T	ENSP00000496669.1:p.Gln49Ter
ENST00000367021.7:c.145C>T	ENSP00000355988.3:p.Gln49Ter
ENST00000456314.1:c.145C>T	ENSP00000403855.1:p.Gln49Ter
ENST00000542854.5:c.-112+4678C>T	ENSP00000440532.1:n.-112+4678C>T
NM_001206696.1:c.-112+4678C>T	NP_001193625.1:n.-112+4678C>T
NM_006147.3:c.145C>T	NP_006138.1:p.Gln49Ter
NM_006147.4:c.145C>T MANE Select	NP_006138.1:p.Gln49Ter
NM_001206696.2:c.-112+4678C>T	NP_001193625.1:n.-112+4678C>T