Allele Registry

Canonical Allele Identifier: CA10588277

Gene: IRF6 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.209790888C>T

GRCh37 chr1:g.209964233C>T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000255712

ClinVar Variation:

265198

dbSNP:

886039390

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790888C>T , CM000663.2:g.209790888C>T	GRCh38
NC_000001.10:g.209964233C>T , CM000663.1:g.209964233C>T	GRCh37
NC_000001.9:g.208030856C>T	NCBI36
NG_007081.2:g.20247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.668-1G>A	ENSP00000512426.1:n.668-1G>A
ENST00000696134.1:c.*94G>A	ENSP00000512427.1:n.*94G>A
ENST00000367021.8:c.668-1G>A MANE Select	ENSP00000355988.3:n.668-1G>A
ENST00000643798.1:c.*178-1G>A	ENSP00000496669.1:n.*178-1G>A
ENST00000367021.7:c.668-1G>A	ENSP00000355988.3:n.668-1G>A
ENST00000456314.1:c.668-1G>A	ENSP00000403855.1:n.668-1G>A
ENST00000464698.1:n.447-1G>A
ENST00000542854.5:c.383-1G>A	ENSP00000440532.1:n.383-1G>A
NM_001206696.1:c.383-1G>A	NP_001193625.1:n.383-1G>A
NM_006147.3:c.668-1G>A	NP_006138.1:n.668-1G>A
NM_006147.4:c.668-1G>A MANE Select	NP_006138.1:n.668-1G>A
NM_001206696.2:c.383-1G>A	NP_001193625.1:n.383-1G>A

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