Canonical Allele Identifier: CA1619206425
Community Standard Title: NM_005007.4(NFKBIL1):c.670C= (p.Arg224=)
Gene: NFKBIL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31558135C= , CM000668.2:g.31558135C= GRCh38
NC_000006.11:g.31525912C= , CM000668.1:g.31525912C= GRCh37
NC_000006.10:g.31633891C= NCBI36
NG_012344.1:g.16285C=

Transcript Alleles

HGVS Amino-acid Change
NM_005007.4:c.670C= MANE Select NP_004998.3:p.Arg224=
ENST00000376148.9:c.670C= MANE Select ENSP00000365318.4:p.Arg224=
NM_001144961.1:c.625C= NP_001138433.1:p.Arg209=
NM_001144961.2:c.625C= NP_001138433.1:p.Arg209=
NM_001144962.1:c.601C= NP_001138434.1:p.Arg201=
NM_001144962.2:c.601C= NP_001138434.1:p.Arg201=
NM_001144963.1:c.556C= NP_001138435.1:p.Arg186=
NM_001144963.2:c.556C= NP_001138435.1:p.Arg186=
NM_005007.3:c.670C= NP_004998.3:p.Arg224=
ENST00000376145.8:c.625C= ENSP00000365315.4:p.Arg209=
ENST00000376146.8:c.601C= ENSP00000365316.4:p.Arg201=
ENST00000376148.8:c.670C= ENSP00000365318.4:p.Arg224=
XR_926695.1:n.117-7576G=