Canonical Allele Identifier: CA252762
Gene: IRF6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 3419
ClinVar RCV Id: RCV000003588
dbSNP Id: rs28942095

User contributed link-outs

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
NM_001206696.1:c.913C>T VV NP_001193625.1:p.Arg305Trp
NM_006147.3:c.1198C>T VV NP_006138.1:p.Arg400Trp
NM_006147.4:c.1198C>T VV MANE Preferred NP_006138.1:p.Arg400Trp
ENST00000367021.7:c.1198C>T ENSP00000355988.3:p.Arg400Trp
ENST00000542854.5:c.913C>T ENSP00000440532.1:p.Arg305Trp