Canonical Allele Identifier: CA1011773439
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs1407380600
gnomAD v3: 1-209785947-C-G
gnomAD v4: 1-209785947-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209785947C>G , CM000663.2:g.209785947C>G GRCh38
NC_000001.10:g.209959292C>G , CM000663.1:g.209959292C>G GRCh37
NC_000001.9:g.208025915C>G NCBI36
NG_007081.2:g.25188G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1401-2238G>C ENSP00000512426.1:n.1401-2238G>C
ENST00000696134.1:c.*3304G>C ENSP00000512427.1:n.*3304G>C
ENST00000367021.8:c.*2473G>C MANE Select ENSP00000355988.3:n.*2473G>C
ENST00000367021.7:c.*2473G>C ENSP00000355988.3:n.*2473G>C
ENST00000542854.5:c.*2473G>C ENSP00000440532.1:n.*2473G>C
NM_001206696.1:c.*2473G>C NP_001193625.1:n.*2473G>C
NM_006147.3:c.*2473G>C NP_006138.1:n.*2473G>C
NM_006147.4:c.*2473G>C MANE Select NP_006138.1:n.*2473G>C
NM_001206696.2:c.*2473G>C NP_001193625.1:n.*2473G>C
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