Canonical Allele Identifier: CA357957646

Gene: NFKB1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102537879G>A , CM000666.2:g.102537879G>A	GRCh38
NC_000004.11:g.103459036G>A , CM000666.1:g.103459036G>A	GRCh37
NC_000004.10:g.103678064G>A	NCBI36
NG_050628.1:g.41551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507079.6:c.205G>A	ENSP00000426147.2:p.Val69Ile
ENST00000509165.2:c.181G>A	ENSP00000423877.2:p.Val61Ile
ENST00000697793.1:n.279G>A
ENST00000697794.1:c.118+7965G>A	ENSP00000513443.1:n.118+7965G>A
ENST00000697796.1:n.457G>A
ENST00000697797.1:n.375G>A
ENST00000697798.1:n.5823G>A
ENST00000226574.9:c.181G>A MANE Select	ENSP00000226574.4:p.Val61Ile
ENST00000652569.1:c.95G>A
ENST00000652619.1:c.202G>A	ENSP00000499031.1:p.Val68Ile
ENST00000226574.8:c.181G>A	ENSP00000226574.4:p.Val61Ile
ENST00000394820.8:c.178G>A	ENSP00000378297.4:p.Val60Ile
ENST00000502367.1:n.281G>A
ENST00000505458.5:c.178G>A	ENSP00000424790.1:p.Val60Ile
ENST00000507079.5:c.205G>A	ENSP00000426147.1:p.Val69Ile
ENST00000509165.1:c.181G>A	ENSP00000423877.1:p.Val61Ile
ENST00000511926.5:c.202G>A	ENSP00000420904.1:p.Val68Ile
ENST00000513803.5:n.64G>A
NM_001165412.1:c.178G>A	NP_001158884.1:p.Val60Ile
NM_003998.3:c.181G>A	NP_003989.2:p.Val61Ile
XM_011532006.1:c.202G>A	XP_011530308.1:p.Val68Ile
XM_011532007.1:c.178G>A	XP_011530309.1:p.Val60Ile
XM_011532008.1:c.181G>A	XP_011530310.1:p.Val61Ile
XM_011532009.1:c.-216G>A	XP_011530311.1:n.-216G>A
NM_001319226.1:c.178G>A	NP_001306155.1:p.Val60Ile
XM_011532006.2:c.202G>A	XP_011530308.1:p.Val68Ile
XM_024454067.1:c.205G>A	XP_024309835.1:p.Val69Ile
XM_024454068.1:c.181G>A	XP_024309836.1:p.Val61Ile
XM_024454069.1:c.205G>A	XP_024309837.1:p.Val69Ile
NM_003998.4:c.181G>A MANE Select	NP_003989.2:p.Val61Ile
NM_001165412.2:c.178G>A	NP_001158884.1:p.Val60Ile
NM_001319226.2:c.178G>A	NP_001306155.1:p.Val60Ile
NM_001382625.1:c.181G>A	NP_001369554.1:p.Val61Ile
NM_001382626.1:c.181G>A	NP_001369555.1:p.Val61Ile
NM_001382627.1:c.178G>A	NP_001369556.1:p.Val60Ile
NM_001382628.1:c.139G>A	NP_001369557.1:p.Val47Ile