Canonical Allele Identifier: CA363333452

Gene: NFKBIL1

Linked Data

• dbSNP Id: rs3130062
• MyVariant Identifiers: chr6:g.31525912C>G (hg19) ; chr6:g.31558135C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000376148.9:c.670C>G MANE Select	ENSP00000365318.4:p.Arg224Gly
ENST00000376145.8:c.625C>G	ENSP00000365315.4:p.Arg209Gly
ENST00000376146.8:c.601C>G	ENSP00000365316.4:p.Arg201Gly
ENST00000376148.8:c.670C>G	ENSP00000365318.4:p.Arg224Gly
NM_001144961.1:c.625C>G	NP_001138433.1:p.Arg209Gly
NM_001144962.1:c.601C>G	NP_001138434.1:p.Arg201Gly
NM_001144963.1:c.556C>G	NP_001138435.1:p.Arg186Gly
NM_005007.3:c.670C>G	NP_004998.3:p.Arg224Gly
XR_926695.1:n.117-7576G>C
NM_005007.4:c.670C>G MANE Select	NP_004998.3:p.Arg224Gly
NM_001144961.2:c.625C>G	NP_001138433.1:p.Arg209Gly
NM_001144962.2:c.601C>G	NP_001138434.1:p.Arg201Gly
NM_001144963.2:c.556C>G	NP_001138435.1:p.Arg186Gly