Canonical Allele Identifier: CA2650337867
Gene: IRF6 HGNC NCBI

Linked Data

gnomAD v4: 1-209785781-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209785781A>G , CM000663.2:g.209785781A>G GRCh38
NC_000001.10:g.209959126A>G , CM000663.1:g.209959126A>G GRCh37
NC_000001.9:g.208025749A>G NCBI36
NG_007081.2:g.25354T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1401-2072T>C ENSP00000512426.1:n.1401-2072T>C
ENST00000696134.1:c.*3470T>C ENSP00000512427.1:n.*3470T>C
ENST00000367021.8:c.*2639T>C MANE Select ENSP00000355988.3:n.*2639T>C
ENST00000367021.7:c.*2639T>C ENSP00000355988.3:n.*2639T>C
ENST00000542854.5:c.*2639T>C ENSP00000440532.1:n.*2639T>C
NM_001206696.1:c.*2639T>C NP_001193625.1:n.*2639T>C
NM_006147.3:c.*2639T>C NP_006138.1:n.*2639T>C
NM_006147.4:c.*2639T>C MANE Select NP_006138.1:n.*2639T>C
NM_001206696.2:c.*2639T>C NP_001193625.1:n.*2639T>C
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