Canonical Allele Identifier: CA16603560
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 381662
ClinVar RCV Id: RCV000437849
dbSNP Id: rs1057521133

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801314T>C , CM000663.2:g.209801314T>C GRCh38
NC_000001.10:g.209974659T>C , CM000663.1:g.209974659T>C GRCh37
NC_000001.9:g.208041282T>C NCBI36
NG_007081.2:g.9821A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.100A>G ENSP00000512426.1:p.Lys34Glu
ENST00000696134.1:c.100A>G ENSP00000512427.1:p.Lys34Glu
ENST00000367021.8:c.100A>G MANE Select ENSP00000355988.3:p.Lys34Glu
ENST00000643798.1:c.100A>G ENSP00000496669.1:p.Lys34Glu
ENST00000367021.7:c.100A>G ENSP00000355988.3:p.Lys34Glu
ENST00000456314.1:c.100A>G ENSP00000403855.1:p.Lys34Glu
ENST00000542854.5:c.-112+4633A>G ENSP00000440532.1:n.-112+4633A>G
NM_001206696.1:c.-112+4633A>G NP_001193625.1:n.-112+4633A>G
NM_006147.3:c.100A>G NP_006138.1:p.Lys34Glu
NM_006147.4:c.100A>G MANE Select NP_006138.1:p.Lys34Glu
NM_001206696.2:c.-112+4633A>G NP_001193625.1:n.-112+4633A>G