Canonical Allele Identifier: CA2650338149
Gene: IRF6 HGNC NCBI

Linked Data

gnomAD v4: 1-209786262-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786262A>G , CM000663.2:g.209786262A>G GRCh38
NC_000001.10:g.209959607A>G , CM000663.1:g.209959607A>G GRCh37
NC_000001.9:g.208026230A>G NCBI36
NG_007081.2:g.24873T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1400+2162T>C ENSP00000512426.1:n.1400+2162T>C
ENST00000696134.1:c.*2989T>C ENSP00000512427.1:n.*2989T>C
ENST00000367021.8:c.*2158T>C MANE Select ENSP00000355988.3:n.*2158T>C
ENST00000367021.7:c.*2158T>C ENSP00000355988.3:n.*2158T>C
ENST00000542854.5:c.*2158T>C ENSP00000440532.1:n.*2158T>C
NM_001206696.1:c.*2158T>C NP_001193625.1:n.*2158T>C
NM_006147.3:c.*2158T>C NP_006138.1:n.*2158T>C
NM_006147.4:c.*2158T>C MANE Select NP_006138.1:n.*2158T>C
NM_001206696.2:c.*2158T>C NP_001193625.1:n.*2158T>C
Search 100 bp 5'
Search 100 bp 3'