Canonical Allele Identifier: CA2574124921
Gene: IRF6 HGNC NCBI

Linked Data

gnomAD v4: 1-209789592-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209789592G>T , CM000663.2:g.209789592G>T GRCh38
NC_000001.10:g.209962937G>T , CM000663.1:g.209962937G>T GRCh37
NC_000001.9:g.208029560G>T NCBI36
NG_007081.2:g.21543C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1179+75C>A ENSP00000512426.1:n.1179+75C>A
ENST00000696134.1:c.*606+75C>A ENSP00000512427.1:n.*606+75C>A
ENST00000367021.8:c.1179+75C>A MANE Select ENSP00000355988.3:n.1179+75C>A
ENST00000643798.1:c.*689+75C>A ENSP00000496669.1:n.*689+75C>A
ENST00000367021.7:c.1179+75C>A ENSP00000355988.3:n.1179+75C>A
ENST00000542854.5:c.894+75C>A ENSP00000440532.1:n.894+75C>A
NM_001206696.1:c.894+75C>A NP_001193625.1:n.894+75C>A
NM_006147.3:c.1179+75C>A NP_006138.1:n.1179+75C>A
NM_006147.4:c.1179+75C>A MANE Select NP_006138.1:n.1179+75C>A
NM_001206696.2:c.894+75C>A NP_001193625.1:n.894+75C>A
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