Canonical Allele Identifier: CA1377174
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs200166664

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209788625C>A , CM000663.2:g.209788625C>A GRCh38
NC_000001.10:g.209961970C>A , CM000663.1:g.209961970C>A GRCh37
NC_000001.9:g.208028593C>A NCBI36
NG_007081.2:g.22510G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1199G>T ENSP00000512426.1:p.Arg400Leu
ENST00000696134.1:c.*626G>T ENSP00000512427.1:n.*626G>T
ENST00000367021.8:c.1199G>T MANE Select ENSP00000355988.3:p.Arg400Leu
ENST00000643798.1:c.*709G>T ENSP00000496669.1:n.*709G>T
ENST00000367021.7:c.1199G>T ENSP00000355988.3:p.Arg400Leu
ENST00000542854.5:c.914G>T ENSP00000440532.1:p.Arg305Leu
NM_001206696.1:c.914G>T NP_001193625.1:p.Arg305Leu
NM_006147.3:c.1199G>T NP_006138.1:p.Arg400Leu
NM_006147.4:c.1199G>T MANE Select NP_006138.1:p.Arg400Leu
NM_001206696.2:c.914G>T NP_001193625.1:p.Arg305Leu