Canonical Allele Identifier: CA2484364030
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs2077831964
gnomAD v4: 1-209786124-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786124T>C , CM000663.2:g.209786124T>C GRCh38
NC_000001.10:g.209959469T>C , CM000663.1:g.209959469T>C GRCh37
NC_000001.9:g.208026092T>C NCBI36
NG_007081.2:g.25011A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1400+2300A>G ENSP00000512426.1:n.1400+2300A>G
ENST00000696134.1:c.*3127A>G ENSP00000512427.1:n.*3127A>G
ENST00000367021.8:c.*2296A>G MANE Select ENSP00000355988.3:n.*2296A>G
ENST00000367021.7:c.*2296A>G ENSP00000355988.3:n.*2296A>G
ENST00000542854.5:c.*2296A>G ENSP00000440532.1:n.*2296A>G
NM_001206696.1:c.*2296A>G NP_001193625.1:n.*2296A>G
NM_006147.3:c.*2296A>G NP_006138.1:n.*2296A>G
NM_006147.4:c.*2296A>G MANE Select NP_006138.1:n.*2296A>G
NM_001206696.2:c.*2296A>G NP_001193625.1:n.*2296A>G
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