Canonical Allele Identifier: CA2650338084

Gene: IRF6

Linked Data

• gnomAD v4: 1-209786175-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786175G>A , CM000663.2:g.209786175G>A	GRCh38
NC_000001.10:g.209959520G>A , CM000663.1:g.209959520G>A	GRCh37
NC_000001.9:g.208026143G>A	NCBI36
NG_007081.2:g.24960C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+2249C>T	ENSP00000512426.1:n.1400+2249C>T
ENST00000696134.1:c.*3076C>T	ENSP00000512427.1:n.*3076C>T
ENST00000367021.8:c.*2245C>T MANE Select	ENSP00000355988.3:n.*2245C>T
ENST00000367021.7:c.*2245C>T	ENSP00000355988.3:n.*2245C>T
ENST00000542854.5:c.*2245C>T	ENSP00000440532.1:n.*2245C>T
NM_001206696.1:c.*2245C>T	NP_001193625.1:n.*2245C>T
NM_006147.3:c.*2245C>T	NP_006138.1:n.*2245C>T
NM_006147.4:c.*2245C>T MANE Select	NP_006138.1:n.*2245C>T
NM_001206696.2:c.*2245C>T	NP_001193625.1:n.*2245C>T