Canonical Allele Identifier: CA415215667

Gene: IKBKG

Linked Data

• MyVariant Identifiers: chrX:g.153789979G>A (hg19) ; chrX:g.154561764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154561764G>A , CM000685.2:g.154561764G>A	GRCh38
NC_000023.10:g.153789979G>A , CM000685.1:g.153789979G>A	GRCh37
NC_000023.9:g.153443173G>A	NCBI36
NG_009896.1:g.24521G>A , LRG_70:g.24521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.712G>A	ENSP00000398579.2:p.Val238Met
ENST00000422680.6:c.748G>A	ENSP00000390368.3:p.Val250Met
ENST00000440286.6:c.748G>A	ENSP00000394934.2:p.Val250Met
ENST00000445622.6:c.748G>A	ENSP00000395205.2:p.Val250Met
ENST00000615186.5:c.346G>A	ENSP00000479144.2:p.Val116Met
ENST00000686774.1:c.*129G>A	ENSP00000510218.1:n.*129G>A
ENST00000687445.1:n.1120G>A
ENST00000689906.1:c.595G>A	ENSP00000508630.1:p.Val199Met
ENST00000692948.1:c.805G>A	ENSP00000508773.1:p.Val269Met
ENST00000693029.1:n.1123G>A
ENST00000594239.6:c.748G>A MANE Select	ENSP00000471166.1:p.Val250Met
ENST00000440286.5:c.748G>A	ENSP00000394934.1:p.Val250Met
ENST00000594239.5:c.748G>A	ENSP00000471166.1:p.Val250Met
ENST00000611071.4:c.748G>A	ENSP00000479662.1:p.Val250Met
ENST00000611176.4:c.595G>A	ENSP00000478616.1:p.Val199Met
ENST00000612051.1:c.*740G>A	ENSP00000480431.1:n.*740G>A
ENST00000615874.4:c.744+1G>A	ENSP00000483381.1:n.744+1G>A
ENST00000617207.4:c.745G>A	ENSP00000484023.1:p.Val249Met
ENST00000617838.1:n.200-1046G>A
ENST00000618670.4:c.952G>A	ENSP00000483825.1:p.Val318Met
ENST00000619941.4:c.747+1G>A	ENSP00000478979.1:n.747+1G>A
NM_001099856.3:c.952G>A	NP_001093326.2:p.Val318Met
NM_001099857.2:c.748G>A	NP_001093327.1:p.Val250Met
NM_001145255.2:c.595G>A	NP_001138727.1:p.Val199Met
NM_003639.4:c.748G>A	NP_003630.1:p.Val250Met
XM_005274760.3:c.949G>A	XP_005274817.1:p.Val317Met
XM_005274761.3:c.952G>A	XP_005274818.1:p.Val318Met
XM_005274764.3:c.745G>A	XP_005274821.1:p.Val249Met
XM_011531203.1:c.799G>A	XP_011529505.1:p.Val267Met
XM_011531204.1:c.748G>A	XP_011529506.1:p.Val250Met
XM_011531205.1:c.748G>A	XP_011529507.1:p.Val250Met
NM_001099856.4:c.952G>A	NP_001093326.2:p.Val318Met
NM_001321396.1:c.748G>A	NP_001308325.1:p.Val250Met
NM_001321397.1:c.745G>A	NP_001308326.1:p.Val249Met
NM_001099856.6:c.952G>A	NP_001093326.2:p.Val318Met
NM_001099857.4:c.748G>A	NP_001093327.1:p.Val250Met
NM_001145255.4:c.595G>A	NP_001138727.1:p.Val199Met
NM_001321396.3:c.748G>A	NP_001308325.1:p.Val250Met
NM_001321397.3:c.745G>A	NP_001308326.1:p.Val249Met
NM_001377312.1:c.748G>A	NP_001364241.1:p.Val250Met
NM_001377313.1:c.745G>A	NP_001364242.1:p.Val249Met
NM_001377314.1:c.592G>A	NP_001364243.1:p.Val198Met
NM_001377315.1:c.400-1046G>A	NP_001364244.1:n.400-1046G>A
NR_165197.1:n.617G>A
NM_001099857.5:c.748G>A MANE Select	NP_001093327.1:p.Val250Met