Canonical Allele Identifier: CA2650336311
Gene: IRF6 HGNC NCBI

Linked Data

gnomAD v4: 1-209795249-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209795249A>G , CM000663.2:g.209795249A>G GRCh38
NC_000001.10:g.209968594A>G , CM000663.1:g.209968594A>G GRCh37
NC_000001.9:g.208035217A>G NCBI36
NG_007081.2:g.15886T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.508+41T>C ENSP00000512426.1:n.508+41T>C
ENST00000696134.1:c.508+41T>C ENSP00000512427.1:n.508+41T>C
ENST00000367021.8:c.508+41T>C MANE Select ENSP00000355988.3:n.508+41T>C
ENST00000643798.1:c.508+41T>C ENSP00000496669.1:n.508+41T>C
ENST00000367021.7:c.508+41T>C ENSP00000355988.3:n.508+41T>C
ENST00000456314.1:c.508+41T>C ENSP00000403855.1:n.508+41T>C
ENST00000542854.5:c.223+41T>C ENSP00000440532.1:n.223+41T>C
NM_001206696.1:c.223+41T>C NP_001193625.1:n.223+41T>C
NM_006147.3:c.508+41T>C NP_006138.1:n.508+41T>C
NM_006147.4:c.508+41T>C MANE Select NP_006138.1:n.508+41T>C
NM_001206696.2:c.223+41T>C NP_001193625.1:n.223+41T>C
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