Canonical Allele Identifier: CA344583331
Community Standard Title: NM_006147.4(IRF6):c.251G>C (p.Arg84Pro)
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209796476C>G , CM000663.2:g.209796476C>G GRCh38
NC_000001.10:g.209969821C>G , CM000663.1:g.209969821C>G GRCh37
NC_000001.9:g.208036444C>G NCBI36
NG_007081.2:g.14659G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.251G>C MANE Select NP_006138.1:p.Arg84Pro
ENST00000367021.8:c.251G>C MANE Select ENSP00000355988.3:p.Arg84Pro
NM_001206696.1:c.-35G>C NP_001193625.1:n.-35G>C
NM_001206696.2:c.-35G>C NP_001193625.1:n.-35G>C
NM_006147.3:c.251G>C NP_006138.1:p.Arg84Pro
ENST00000367021.7:c.251G>C ENSP00000355988.3:p.Arg84Pro
ENST00000456314.1:c.251G>C ENSP00000403855.1:p.Arg84Pro
ENST00000542854.5:c.-35G>C ENSP00000440532.1:n.-35G>C
ENST00000643798.1:c.251G>C ENSP00000496669.1:p.Arg84Pro
ENST00000696133.1:c.251G>C ENSP00000512426.1:p.Arg84Pro
ENST00000696134.1:c.251G>C ENSP00000512427.1:p.Arg84Pro