Canonical Allele Identifier: CA389455493
Gene: NFKBIA HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.35404626G>T , CM000676.2:g.35404626G>T GRCh38
NC_000014.8:g.35873832G>T , CM000676.1:g.35873832G>T GRCh37
NC_000014.7:g.34943583G>T NCBI36
NG_007571.1:g.5113C>A , LRG_89:g.5113C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553342.2:c.19C>A ENSP00000451281.2:p.Arg7Ser
ENST00000557459.2:n.117C>A
ENST00000697957.1:n.124C>A
ENST00000697958.1:n.117C>A
ENST00000697959.1:n.124C>A
ENST00000697960.1:n.104C>A
ENST00000697961.1:c.19C>A ENSP00000513487.1:p.Arg7Ser
ENST00000697966.1:n.49-12C>A
ENST00000216797.10:c.19C>A MANE Select ENSP00000216797.6:p.Arg7Ser
ENST00000216797.9:c.19C>A ENSP00000216797.5:p.Arg7Ser
ENST00000553342.1:c.19C>A ENSP00000451281.1:p.Arg7Ser
ENST00000554001.5:c.19C>A ENSP00000450537.1:p.Arg7Ser
ENST00000555629.1:n.124C>A
ENST00000557100.5:n.75C>A
ENST00000557140.5:c.19C>A ENSP00000451257.1:p.Arg7Ser
ENST00000557459.1:n.117C>A
NM_020529.2:c.19C>A , LRG_89t1:c.19C>A NP_065390.1:p.Arg7Ser
NM_020529.3:c.19C>A MANE Select NP_065390.1:p.Arg7Ser