Canonical Allele Identifier: CA1011773548
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs2077832071
gnomAD v3: 1-209786131-C-T
gnomAD v4: 1-209786131-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786131C>T , CM000663.2:g.209786131C>T GRCh38
NC_000001.10:g.209959476C>T , CM000663.1:g.209959476C>T GRCh37
NC_000001.9:g.208026099C>T NCBI36
NG_007081.2:g.25004G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1400+2293G>A ENSP00000512426.1:n.1400+2293G>A
ENST00000696134.1:c.*3120G>A ENSP00000512427.1:n.*3120G>A
ENST00000367021.8:c.*2289G>A MANE Select ENSP00000355988.3:n.*2289G>A
ENST00000367021.7:c.*2289G>A ENSP00000355988.3:n.*2289G>A
ENST00000542854.5:c.*2289G>A ENSP00000440532.1:n.*2289G>A
NM_001206696.1:c.*2289G>A NP_001193625.1:n.*2289G>A
NM_006147.3:c.*2289G>A NP_006138.1:n.*2289G>A
NM_006147.4:c.*2289G>A MANE Select NP_006138.1:n.*2289G>A
NM_001206696.2:c.*2289G>A NP_001193625.1:n.*2289G>A
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