Canonical Allele Identifier: CA10609603
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 295180
ClinVar RCV Id: RCV000303524 RCV000407994
dbSNP Id: rs886045878
gnomAD v2: 1-209959998-C-T
gnomAD v3: 1-209786653-C-T
gnomAD v4: 1-209786653-C-T
MyVariant Identifiers: chr1:g.209959998C>T (hg19) chr1:g.209786653C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786653C>T , CM000663.2:g.209786653C>T GRCh38
NC_000001.10:g.209959998C>T , CM000663.1:g.209959998C>T GRCh37
NC_000001.9:g.208026621C>T NCBI36
NG_007081.2:g.24482G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1400+1771G>A ENSP00000512426.1:n.1400+1771G>A
ENST00000696134.1:c.*2598G>A ENSP00000512427.1:n.*2598G>A
ENST00000367021.8:c.*1767G>A MANE Select ENSP00000355988.3:n.*1767G>A
ENST00000367021.7:c.*1767G>A ENSP00000355988.3:n.*1767G>A
ENST00000542854.5:c.*1767G>A ENSP00000440532.1:n.*1767G>A
NM_001206696.1:c.*1767G>A NP_001193625.1:n.*1767G>A
NM_006147.3:c.*1767G>A NP_006138.1:n.*1767G>A
NM_006147.4:c.*1767G>A MANE Select NP_006138.1:n.*1767G>A
NM_001206696.2:c.*1767G>A NP_001193625.1:n.*1767G>A
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