Allele Registry

Canonical Allele Identifier: CA10588276

Gene: IRF6 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.209790696G>A

GRCh37 chr1:g.209964041G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000254748

ClinVar Variation:

265199

dbSNP:

886039391

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790696G>A , CM000663.2:g.209790696G>A	GRCh38
NC_000001.10:g.209964041G>A , CM000663.1:g.209964041G>A	GRCh37
NC_000001.9:g.208030664G>A	NCBI36
NG_007081.2:g.20439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.859C>T	ENSP00000512426.1:p.Gln287Ter
ENST00000696134.1:c.*286C>T	ENSP00000512427.1:n.*286C>T
ENST00000367021.8:c.859C>T MANE Select	ENSP00000355988.3:p.Gln287Ter
ENST00000643798.1:c.*369C>T	ENSP00000496669.1:n.*369C>T
ENST00000367021.7:c.859C>T	ENSP00000355988.3:p.Gln287Ter
ENST00000542854.5:c.574C>T	ENSP00000440532.1:p.Gln192Ter
NM_001206696.1:c.574C>T	NP_001193625.1:p.Gln192Ter
NM_006147.3:c.859C>T	NP_006138.1:p.Gln287Ter
NM_006147.4:c.859C>T MANE Select	NP_006138.1:p.Gln287Ter
NM_001206696.2:c.574C>T	NP_001193625.1:p.Gln192Ter

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