Canonical Allele Identifier: CA3713684
Gene: NFKBIL1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31558135C>T
GRCh37 chr6:g.31525912C>T
Revel Score:
ENST00000376146 0.090
ENST00000542852 0.090
ENST00000376148 (MANE Select) 0.090
ENST00000376145 0.090
gnomAD v2:
6:31525912 C / T
gnomAD v3:
6:31558135 C / T
gnomAD v4:
chr6-31558135-C-T
Joint Max Group AF 0.99378121 (SAS)
Genomes Max Group AF 0.97804552 (AFR)
Exomes Max Group AF 0.9936107 (SAS)
ClinVar RCV:
RCV003982120
ClinVar Variation:
3060091
dbSNP:
3130062
JSON-LD

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
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