Canonical Allele Identifier: CA415216201

Gene: IKBKG

Linked Data

• gnomAD v4: X-154562864-G-C
• MyVariant Identifiers: chrX:g.153791079G>C (hg19) ; chrX:g.154562864G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154562864G>C , CM000685.2:g.154562864G>C	GRCh38
NC_000023.10:g.153791079G>C , CM000685.1:g.153791079G>C	GRCh37
NC_000023.9:g.153444273G>C	NCBI36
NG_009896.1:g.25621G>C , LRG_70:g.25621G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.787G>C	ENSP00000398579.2:p.Val263Leu
ENST00000422680.6:c.823G>C	ENSP00000390368.3:p.Val275Leu
ENST00000440286.6:c.823G>C	ENSP00000394934.2:p.Val275Leu
ENST00000445622.6:c.823G>C	ENSP00000395205.2:p.Val275Leu
ENST00000615186.5:c.421G>C	ENSP00000479144.2:p.Val141Leu
ENST00000686774.1:c.*204G>C	ENSP00000510218.1:n.*204G>C
ENST00000687445.1:n.2220G>C
ENST00000689906.1:c.670G>C	ENSP00000508630.1:p.Val224Leu
ENST00000692948.1:c.880G>C	ENSP00000508773.1:p.Val294Leu
ENST00000693029.1:n.2223G>C
ENST00000594239.6:c.823G>C MANE Select	ENSP00000471166.1:p.Val275Leu
ENST00000594239.5:c.823G>C	ENSP00000471166.1:p.Val275Leu
ENST00000611071.4:c.823G>C	ENSP00000479662.1:p.Val275Leu
ENST00000611176.4:c.616-695G>C	ENSP00000478616.1:n.616-695G>C
ENST00000612051.1:c.*815G>C	ENSP00000480431.1:n.*815G>C
ENST00000615874.4:c.799G>C	ENSP00000483381.1:p.Val267Leu
ENST00000617207.4:c.820G>C	ENSP00000484023.1:p.Val274Leu
ENST00000617838.1:n.254G>C
ENST00000618670.4:c.1027G>C	ENSP00000483825.1:p.Val343Leu
ENST00000619941.4:c.802G>C	ENSP00000478979.1:p.Val268Leu
NM_001099856.3:c.1027G>C	NP_001093326.2:p.Val343Leu
NM_001099857.2:c.823G>C	NP_001093327.1:p.Val275Leu
NM_001145255.2:c.616-695G>C	NP_001138727.1:n.616-695G>C
NM_003639.4:c.823G>C	NP_003630.1:p.Val275Leu
XM_005274760.3:c.1024G>C	XP_005274817.1:p.Val342Leu
XM_005274761.3:c.1027G>C	XP_005274818.1:p.Val343Leu
XM_005274764.3:c.820G>C	XP_005274821.1:p.Val274Leu
XM_011531203.1:c.874G>C	XP_011529505.1:p.Val292Leu
XM_011531204.1:c.823G>C	XP_011529506.1:p.Val275Leu
XM_011531205.1:c.823G>C	XP_011529507.1:p.Val275Leu
NM_001099856.4:c.1027G>C	NP_001093326.2:p.Val343Leu
NM_001321396.1:c.823G>C	NP_001308325.1:p.Val275Leu
NM_001321397.1:c.820G>C	NP_001308326.1:p.Val274Leu
NM_001099856.6:c.1027G>C	NP_001093326.2:p.Val343Leu
NM_001099857.4:c.823G>C	NP_001093327.1:p.Val275Leu
NM_001145255.4:c.616-695G>C	NP_001138727.1:n.616-695G>C
NM_001321396.3:c.823G>C	NP_001308325.1:p.Val275Leu
NM_001321397.3:c.820G>C	NP_001308326.1:p.Val274Leu
NM_001377312.1:c.823G>C	NP_001364241.1:p.Val275Leu
NM_001377313.1:c.820G>C	NP_001364242.1:p.Val274Leu
NM_001377314.1:c.667G>C	NP_001364243.1:p.Val223Leu
NM_001377315.1:c.454G>C	NP_001364244.1:p.Val152Leu
NR_165197.1:n.692G>C
NM_001099857.5:c.823G>C MANE Select	NP_001093327.1:p.Val275Leu