Canonical Allele Identifier: CA1011773384

Gene: IRF6

Linked Data

• dbSNP Id: rs2077829470
• gnomAD v3: 1-209785772-G-A
• gnomAD v4: 1-209785772-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209785772G>A , CM000663.2:g.209785772G>A	GRCh38
NC_000001.10:g.209959117G>A , CM000663.1:g.209959117G>A	GRCh37
NC_000001.9:g.208025740G>A	NCBI36
NG_007081.2:g.25363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1401-2063C>T	ENSP00000512426.1:n.1401-2063C>T
ENST00000696134.1:c.*3479C>T	ENSP00000512427.1:n.*3479C>T
ENST00000367021.8:c.*2648C>T MANE Select	ENSP00000355988.3:n.*2648C>T
ENST00000367021.7:c.*2648C>T	ENSP00000355988.3:n.*2648C>T
ENST00000542854.5:c.*2648C>T	ENSP00000440532.1:n.*2648C>T
NM_001206696.1:c.*2648C>T	NP_001193625.1:n.*2648C>T
NM_006147.3:c.*2648C>T	NP_006138.1:n.*2648C>T
NM_006147.4:c.*2648C>T MANE Select	NP_006138.1:n.*2648C>T
NM_001206696.2:c.*2648C>T	NP_001193625.1:n.*2648C>T