Canonical Allele Identifier: CA2650338061
Gene: IRF6 HGNC NCBI

Linked Data

gnomAD v4: 1-209786130-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786130A>G , CM000663.2:g.209786130A>G GRCh38
NC_000001.10:g.209959475A>G , CM000663.1:g.209959475A>G GRCh37
NC_000001.9:g.208026098A>G NCBI36
NG_007081.2:g.25005T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1400+2294T>C ENSP00000512426.1:n.1400+2294T>C
ENST00000696134.1:c.*3121T>C ENSP00000512427.1:n.*3121T>C
ENST00000367021.8:c.*2290T>C MANE Select ENSP00000355988.3:n.*2290T>C
ENST00000367021.7:c.*2290T>C ENSP00000355988.3:n.*2290T>C
ENST00000542854.5:c.*2290T>C ENSP00000440532.1:n.*2290T>C
NM_001206696.1:c.*2290T>C NP_001193625.1:n.*2290T>C
NM_006147.3:c.*2290T>C NP_006138.1:n.*2290T>C
NM_006147.4:c.*2290T>C MANE Select NP_006138.1:n.*2290T>C
NM_001206696.2:c.*2290T>C NP_001193625.1:n.*2290T>C
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