Canonical Allele Identifier: CA16077937
Gene: IRF6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209803766A>G , CM000663.2:g.209803766A>G GRCh38
NC_000001.10:g.209977111A>G , CM000663.1:g.209977111A>G GRCh37
NC_000001.9:g.208043734A>G NCBI36
NG_007081.2:g.7369T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.-75-1723T>C ENSP00000512426.1:n.-75-1723T>C
ENST00000696134.1:c.-75-1723T>C ENSP00000512427.1:n.-75-1723T>C
ENST00000367021.8:c.-75-1723T>C MANE Select ENSP00000355988.3:n.-75-1723T>C
ENST00000367021.7:c.-75-1723T>C ENSP00000355988.3:n.-75-1723T>C
ENST00000542854.5:c.-112+2181T>C ENSP00000440532.1:n.-112+2181T>C
NM_001206696.1:c.-112+2181T>C NP_001193625.1:n.-112+2181T>C
NM_006147.3:c.-75-1723T>C NP_006138.1:n.-75-1723T>C
NM_006147.4:c.-75-1723T>C MANE Select NP_006138.1:n.-75-1723T>C
NM_001206696.2:c.-112+2181T>C NP_001193625.1:n.-112+2181T>C
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