Canonical Allele Identifier: CA344574945
Community Standard Title: NM_006147.4(IRF6):c.1061-1G>T
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209789786C>A , CM000663.2:g.209789786C>A GRCh38
NC_000001.10:g.209963131C>A , CM000663.1:g.209963131C>A GRCh37
NC_000001.9:g.208029754C>A NCBI36
NG_007081.2:g.21349G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006147.4:c.1061-1G>T MANE Select NP_006138.1:n.1061-1G>T
ENST00000367021.8:c.1061-1G>T MANE Select ENSP00000355988.3:n.1061-1G>T
NM_001206696.1:c.776-1G>T NP_001193625.1:n.776-1G>T
NM_001206696.2:c.776-1G>T NP_001193625.1:n.776-1G>T
NM_006147.3:c.1061-1G>T NP_006138.1:n.1061-1G>T
ENST00000367021.7:c.1061-1G>T ENSP00000355988.3:n.1061-1G>T
ENST00000542854.5:c.776-1G>T ENSP00000440532.1:n.776-1G>T
ENST00000643798.1:c.*571-1G>T ENSP00000496669.1:n.*571-1G>T
ENST00000696133.1:c.1061-1G>T ENSP00000512426.1:n.1061-1G>T
ENST00000696134.1:c.*488-1G>T ENSP00000512427.1:n.*488-1G>T