Canonical Allele Identifier: CA3713684

Gene: NFKBIL1

Linked Data

• ClinVar Variation Id: 3060091
• ClinVar RCV Id: RCV003982120
• dbSNP Id: rs3130062
• ExAC: 6:31525912 C / T
• gnomAD v2: 6-31525912-C-T
• gnomAD v3: 6-31558135-C-T
• gnomAD v4: 6-31558135-C-T
• MyVariant Identifiers: chr6:g.31525912C>T (hg19) ; chr6:g.31558135C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000376148.9:c.670C>T MANE Select	ENSP00000365318.4:p.Arg224Cys
ENST00000376145.8:c.625C>T	ENSP00000365315.4:p.Arg209Cys
ENST00000376146.8:c.601C>T	ENSP00000365316.4:p.Arg201Cys
ENST00000376148.8:c.670C>T	ENSP00000365318.4:p.Arg224Cys
NM_001144961.1:c.625C>T	NP_001138433.1:p.Arg209Cys
NM_001144962.1:c.601C>T	NP_001138434.1:p.Arg201Cys
NM_001144963.1:c.556C>T	NP_001138435.1:p.Arg186Cys
NM_005007.3:c.670C>T	NP_004998.3:p.Arg224Cys
XR_926695.1:n.117-7576G>A
NM_005007.4:c.670C>T MANE Select	NP_004998.3:p.Arg224Cys
NM_001144961.2:c.625C>T	NP_001138433.1:p.Arg209Cys
NM_001144962.2:c.601C>T	NP_001138434.1:p.Arg201Cys
NM_001144963.2:c.556C>T	NP_001138435.1:p.Arg186Cys