Canonical Allele Identifier: CA344583808
Community Standard Title: NM_006147.4(IRF6):c.180G>A (p.Trp60Ter)
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209796547C>T , CM000663.2:g.209796547C>T GRCh38
NC_000001.10:g.209969892C>T , CM000663.1:g.209969892C>T GRCh37
NC_000001.9:g.208036515C>T NCBI36
NG_007081.2:g.14588G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.180G>A MANE Select NP_006138.1:p.Trp60Ter
ENST00000367021.8:c.180G>A MANE Select ENSP00000355988.3:p.Trp60Ter
NM_001206696.1:c.-106G>A NP_001193625.1:n.-106G>A
NM_001206696.2:c.-106G>A NP_001193625.1:n.-106G>A
NM_006147.3:c.180G>A NP_006138.1:p.Trp60Ter
ENST00000367021.7:c.180G>A ENSP00000355988.3:p.Trp60Ter
ENST00000456314.1:c.180G>A ENSP00000403855.1:p.Trp60Ter
ENST00000542854.5:c.-106G>A ENSP00000440532.1:n.-106G>A
ENST00000643798.1:c.180G>A ENSP00000496669.1:p.Trp60Ter
ENST00000696133.1:c.180G>A ENSP00000512426.1:p.Trp60Ter
ENST00000696134.1:c.180G>A ENSP00000512427.1:p.Trp60Ter