Canonical Allele Identifier: CA389455073

Gene: NFKBIA

Linked Data

• MyVariant Identifiers: chr14:g.35873684G>C (hg19) ; chr14:g.35404478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404478G>C , CM000676.2:g.35404478G>C	GRCh38
NC_000014.8:g.35873684G>C , CM000676.1:g.35873684G>C	GRCh37
NC_000014.7:g.34943435G>C	NCBI36
NG_007571.1:g.5261C>G , LRG_89:g.5261C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.135+32C>G	ENSP00000451281.2:n.135+32C>G
ENST00000557459.2:n.265C>G
ENST00000697957.1:n.272C>G
ENST00000697958.1:n.265C>G
ENST00000697959.1:n.272C>G
ENST00000697960.1:n.252C>G
ENST00000697961.1:c.167C>G	ENSP00000513487.1:p.Pro56Arg
ENST00000697966.1:n.185C>G
ENST00000216797.10:c.167C>G MANE Select	ENSP00000216797.6:p.Pro56Arg
ENST00000216797.9:c.167C>G	ENSP00000216797.5:p.Pro56Arg
ENST00000553342.1:c.135+32C>G	ENSP00000451281.1:n.135+32C>G
ENST00000554001.5:c.167C>G	ENSP00000450537.1:p.Pro56Arg
ENST00000555629.1:n.272C>G
ENST00000557100.5:n.223C>G
ENST00000557140.5:c.167C>G	ENSP00000451257.1:p.Pro56Arg
ENST00000557459.1:n.265C>G
NM_020529.2:c.167C>G , LRG_89t1:c.167C>G	NP_065390.1:p.Pro56Arg
NM_020529.3:c.167C>G MANE Select	NP_065390.1:p.Pro56Arg