Canonical Allele Identifier: CA389455222

Gene: NFKBIA

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.35404508A>G , CM000676.2:g.35404508A>G	GRCh38
NC_000014.8:g.35873714A>G , CM000676.1:g.35873714A>G	GRCh37
NC_000014.7:g.34943465A>G	NCBI36
NG_007571.1:g.5231T>C , LRG_89:g.5231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553342.2:c.135+2T>C	ENSP00000451281.2:n.135+2T>C
ENST00000557459.2:n.235T>C
ENST00000697957.1:n.242T>C
ENST00000697958.1:n.235T>C
ENST00000697959.1:n.242T>C
ENST00000697960.1:n.222T>C
ENST00000697961.1:c.137T>C	ENSP00000513487.1:p.Val46Ala
ENST00000697966.1:n.155T>C
ENST00000216797.10:c.137T>C MANE Select	ENSP00000216797.6:p.Val46Ala
ENST00000216797.9:c.137T>C	ENSP00000216797.5:p.Val46Ala
ENST00000553342.1:c.135+2T>C	ENSP00000451281.1:n.135+2T>C
ENST00000554001.5:c.137T>C	ENSP00000450537.1:p.Val46Ala
ENST00000555629.1:n.242T>C
ENST00000557100.5:n.193T>C
ENST00000557140.5:c.137T>C	ENSP00000451257.1:p.Val46Ala
ENST00000557459.1:n.235T>C
NM_020529.2:c.137T>C , LRG_89t1:c.137T>C	NP_065390.1:p.Val46Ala
NM_020529.3:c.137T>C MANE Select	NP_065390.1:p.Val46Ala