Canonical Allele Identifier: CA252762
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3419
ClinVar RCV Id: RCV000003588 RCV001060699
dbSNP Id: rs28942095
MyVariant Identifiers: chr1:g.209961971G>A (hg19) chr1:g.209788626G>A (hg38)
PubMed: PMID:12920575 PMID:20184620
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209788626G>A , CM000663.2:g.209788626G>A GRCh38
NC_000001.10:g.209961971G>A , CM000663.1:g.209961971G>A GRCh37
NC_000001.9:g.208028594G>A NCBI36
NG_007081.2:g.22509C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1198C>T ENSP00000512426.1:p.Arg400Trp
ENST00000696134.1:c.*625C>T ENSP00000512427.1:n.*625C>T
ENST00000367021.8:c.1198C>T MANE Select ENSP00000355988.3:p.Arg400Trp
ENST00000643798.1:c.*708C>T ENSP00000496669.1:n.*708C>T
ENST00000367021.7:c.1198C>T ENSP00000355988.3:p.Arg400Trp
ENST00000542854.5:c.913C>T ENSP00000440532.1:p.Arg305Trp
NM_001206696.1:c.913C>T NP_001193625.1:p.Arg305Trp
NM_006147.3:c.1198C>T NP_006138.1:p.Arg400Trp
NM_006147.4:c.1198C>T MANE Select NP_006138.1:p.Arg400Trp
NM_001206696.2:c.913C>T NP_001193625.1:p.Arg305Trp
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