Canonical Allele Identifier: CA423025779
Gene: IRF6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.209961891T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209788546T>C , CM000663.2:g.209788546T>C GRCh38
NC_000001.10:g.209961891T>C , CM000663.1:g.209961891T>C GRCh37
NC_000001.9:g.208028514T>C NCBI36
NG_007081.2:g.22589A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1278A>G ENSP00000512426.1:p.Pro426=
ENST00000696134.1:c.*705A>G ENSP00000512427.1:n.*705A>G
ENST00000367021.8:c.1278A>G MANE Select ENSP00000355988.3:p.Pro426=
ENST00000643798.1:c.*788A>G ENSP00000496669.1:n.*788A>G
ENST00000367021.7:c.1278A>G ENSP00000355988.3:p.Pro426=
ENST00000542854.5:c.993A>G ENSP00000440532.1:p.Pro331=
NM_001206696.1:c.993A>G NP_001193625.1:p.Pro331=
NM_006147.3:c.1278A>G NP_006138.1:p.Pro426=
NM_006147.4:c.1278A>G MANE Select NP_006138.1:p.Pro426=
NM_001206696.2:c.993A>G NP_001193625.1:p.Pro331=