Canonical Allele Identifier: CA10609598
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 295177
ClinVar RCV Id: RCV000295622 RCV000326042
dbSNP Id: rs886045876
gnomAD v2: 1-209959701-C-T
gnomAD v4: 1-209786356-C-T
MyVariant Identifiers: chr1:g.209959701C>T (hg19) chr1:g.209786356C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786356C>T , CM000663.2:g.209786356C>T GRCh38
NC_000001.10:g.209959701C>T , CM000663.1:g.209959701C>T GRCh37
NC_000001.9:g.208026324C>T NCBI36
NG_007081.2:g.24779G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1400+2068G>A ENSP00000512426.1:n.1400+2068G>A
ENST00000696134.1:c.*2895G>A ENSP00000512427.1:n.*2895G>A
ENST00000367021.8:c.*2064G>A MANE Select ENSP00000355988.3:n.*2064G>A
ENST00000367021.7:c.*2064G>A ENSP00000355988.3:n.*2064G>A
ENST00000542854.5:c.*2064G>A ENSP00000440532.1:n.*2064G>A
NM_001206696.1:c.*2064G>A NP_001193625.1:n.*2064G>A
NM_006147.3:c.*2064G>A NP_006138.1:n.*2064G>A
NM_006147.4:c.*2064G>A MANE Select NP_006138.1:n.*2064G>A
NM_001206696.2:c.*2064G>A NP_001193625.1:n.*2064G>A
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