Canonical Allele Identifier: CA415216005

Gene: IKBKG

Linked Data

• dbSNP Id: rs2071140336
• gnomAD v4: X-154562825-G-T
• MyVariant Identifiers: chrX:g.153791040G>T (hg19) ; chrX:g.154562825G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154562825G>T , CM000685.2:g.154562825G>T	GRCh38
NC_000023.10:g.153791040G>T , CM000685.1:g.153791040G>T	GRCh37
NC_000023.9:g.153444234G>T	NCBI36
NG_009896.1:g.25582G>T , LRG_70:g.25582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.748G>T	ENSP00000398579.2:p.Asp250Tyr
ENST00000422680.6:c.784G>T	ENSP00000390368.3:p.Asp262Tyr
ENST00000440286.6:c.784G>T	ENSP00000394934.2:p.Asp262Tyr
ENST00000445622.6:c.784G>T	ENSP00000395205.2:p.Asp262Tyr
ENST00000615186.5:c.382G>T	ENSP00000479144.2:p.Asp128Tyr
ENST00000686774.1:c.*165G>T	ENSP00000510218.1:n.*165G>T
ENST00000687445.1:n.2181G>T
ENST00000689906.1:c.631G>T	ENSP00000508630.1:p.Asp211Tyr
ENST00000692948.1:c.841G>T	ENSP00000508773.1:p.Asp281Tyr
ENST00000693029.1:n.2184G>T
ENST00000594239.6:c.784G>T MANE Select	ENSP00000471166.1:p.Asp262Tyr
ENST00000594239.5:c.784G>T	ENSP00000471166.1:p.Asp262Tyr
ENST00000611071.4:c.784G>T	ENSP00000479662.1:p.Asp262Tyr
ENST00000611176.4:c.616-734G>T	ENSP00000478616.1:n.616-734G>T
ENST00000612051.1:c.*776G>T	ENSP00000480431.1:n.*776G>T
ENST00000615874.4:c.760G>T	ENSP00000483381.1:p.Asp254Tyr
ENST00000617207.4:c.781G>T	ENSP00000484023.1:p.Asp261Tyr
ENST00000617838.1:n.215G>T
ENST00000618670.4:c.988G>T	ENSP00000483825.1:p.Asp330Tyr
ENST00000619941.4:c.763G>T	ENSP00000478979.1:p.Asp255Tyr
NM_001099856.3:c.988G>T	NP_001093326.2:p.Asp330Tyr
NM_001099857.2:c.784G>T	NP_001093327.1:p.Asp262Tyr
NM_001145255.2:c.616-734G>T	NP_001138727.1:n.616-734G>T
NM_003639.4:c.784G>T	NP_003630.1:p.Asp262Tyr
XM_005274760.3:c.985G>T	XP_005274817.1:p.Asp329Tyr
XM_005274761.3:c.988G>T	XP_005274818.1:p.Asp330Tyr
XM_005274764.3:c.781G>T	XP_005274821.1:p.Asp261Tyr
XM_011531203.1:c.835G>T	XP_011529505.1:p.Asp279Tyr
XM_011531204.1:c.784G>T	XP_011529506.1:p.Asp262Tyr
XM_011531205.1:c.784G>T	XP_011529507.1:p.Asp262Tyr
NM_001099856.4:c.988G>T	NP_001093326.2:p.Asp330Tyr
NM_001321396.1:c.784G>T	NP_001308325.1:p.Asp262Tyr
NM_001321397.1:c.781G>T	NP_001308326.1:p.Asp261Tyr
NM_001099856.6:c.988G>T	NP_001093326.2:p.Asp330Tyr
NM_001099857.4:c.784G>T	NP_001093327.1:p.Asp262Tyr
NM_001145255.4:c.616-734G>T	NP_001138727.1:n.616-734G>T
NM_001321396.3:c.784G>T	NP_001308325.1:p.Asp262Tyr
NM_001321397.3:c.781G>T	NP_001308326.1:p.Asp261Tyr
NM_001377312.1:c.784G>T	NP_001364241.1:p.Asp262Tyr
NM_001377313.1:c.781G>T	NP_001364242.1:p.Asp261Tyr
NM_001377314.1:c.628G>T	NP_001364243.1:p.Asp210Tyr
NM_001377315.1:c.415G>T	NP_001364244.1:p.Asp139Tyr
NR_165197.1:n.653G>T
NM_001099857.5:c.784G>T MANE Select	NP_001093327.1:p.Asp262Tyr