Allele Registry

Canonical Allele Identifier: CA10588278

Gene: IRF6 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.209792360C>T

GRCh37 chr1:g.209965705C>T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000254805

ClinVar Variation:

265197

dbSNP:

886039389

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209792360C>T , CM000663.2:g.209792360C>T	GRCh38
NC_000001.10:g.209965705C>T , CM000663.1:g.209965705C>T	GRCh37
NC_000001.9:g.208032328C>T	NCBI36
NG_007081.2:g.18775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.576G>A	ENSP00000512426.1:p.Trp192Ter
ENST00000696134.1:c.576G>A	ENSP00000512427.1:p.Trp192Ter
ENST00000367021.8:c.576G>A MANE Select	ENSP00000355988.3:p.Trp192Ter
ENST00000643798.1:c.*86G>A	ENSP00000496669.1:n.*86G>A
ENST00000367021.7:c.576G>A	ENSP00000355988.3:p.Trp192Ter
ENST00000456314.1:c.576G>A	ENSP00000403855.1:p.Trp192Ter
ENST00000464698.1:n.355G>A
ENST00000542854.5:c.291G>A	ENSP00000440532.1:p.Trp97Ter
NM_001206696.1:c.291G>A	NP_001193625.1:p.Trp97Ter
NM_006147.3:c.576G>A	NP_006138.1:p.Trp192Ter
NM_006147.4:c.576G>A MANE Select	NP_006138.1:p.Trp192Ter
NM_001206696.2:c.291G>A	NP_001193625.1:p.Trp97Ter

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