Canonical Allele Identifier: CA344585771
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs1195798499
gnomAD v2: 1-209974667-C-T
gnomAD v4: 1-209801322-C-T
MyVariant Identifiers: chr1:g.209974667C>T (hg19) chr1:g.209801322C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801322C>T , CM000663.2:g.209801322C>T GRCh38
NC_000001.10:g.209974667C>T , CM000663.1:g.209974667C>T GRCh37
NC_000001.9:g.208041290C>T NCBI36
NG_007081.2:g.9813G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.92G>A ENSP00000512426.1:p.Arg31Lys
ENST00000696134.1:c.92G>A ENSP00000512427.1:p.Arg31Lys
ENST00000367021.8:c.92G>A MANE Select ENSP00000355988.3:p.Arg31Lys
ENST00000643798.1:c.92G>A ENSP00000496669.1:p.Arg31Lys
ENST00000367021.7:c.92G>A ENSP00000355988.3:p.Arg31Lys
ENST00000456314.1:c.92G>A ENSP00000403855.1:p.Arg31Lys
ENST00000542854.5:c.-112+4625G>A ENSP00000440532.1:n.-112+4625G>A
NM_001206696.1:c.-112+4625G>A NP_001193625.1:n.-112+4625G>A
NM_006147.3:c.92G>A NP_006138.1:p.Arg31Lys
NM_006147.4:c.92G>A MANE Select NP_006138.1:p.Arg31Lys
NM_001206696.2:c.-112+4625G>A NP_001193625.1:n.-112+4625G>A
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