Canonical Allele Identifier: CA519286472
Gene: IKBKG HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153791108G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154562893G>C , CM000685.2:g.154562893G>C GRCh38
NC_000023.10:g.153791108G>C , CM000685.1:g.153791108G>C GRCh37
NC_000023.9:g.153444302G>C NCBI36
NG_009896.1:g.25650G>C , LRG_70:g.25650G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.816G>C ENSP00000398579.2:p.Leu272=
ENST00000422680.6:c.852G>C ENSP00000390368.3:p.Leu284=
ENST00000440286.6:c.852G>C ENSP00000394934.2:p.Leu284=
ENST00000445622.6:c.852G>C ENSP00000395205.2:p.Leu284=
ENST00000615186.5:c.450G>C ENSP00000479144.2:p.Leu150=
ENST00000686774.1:c.*233G>C ENSP00000510218.1:n.*233G>C
ENST00000687445.1:n.2249G>C
ENST00000689906.1:c.699G>C ENSP00000508630.1:p.Leu233=
ENST00000692948.1:c.909G>C ENSP00000508773.1:p.Leu303=
ENST00000693029.1:n.2252G>C
ENST00000594239.6:c.852G>C MANE Select ENSP00000471166.1:p.Leu284=
ENST00000594239.5:c.852G>C ENSP00000471166.1:p.Leu284=
ENST00000611071.4:c.852G>C ENSP00000479662.1:p.Leu284=
ENST00000611176.4:c.616-666G>C ENSP00000478616.1:n.616-666G>C
ENST00000612051.1:c.*844G>C ENSP00000480431.1:n.*844G>C
ENST00000615874.4:c.828G>C ENSP00000483381.1:p.Leu276=
ENST00000617207.4:c.849G>C ENSP00000484023.1:p.Leu283=
ENST00000617838.1:n.283G>C
ENST00000618670.4:c.1056G>C ENSP00000483825.1:p.Leu352=
ENST00000619941.4:c.831G>C ENSP00000478979.1:p.Leu277=
NM_001099856.3:c.1056G>C NP_001093326.2:p.Leu352=
NM_001099857.2:c.852G>C NP_001093327.1:p.Leu284=
NM_001145255.2:c.616-666G>C NP_001138727.1:n.616-666G>C
NM_003639.4:c.852G>C NP_003630.1:p.Leu284=
XM_005274760.3:c.1053G>C XP_005274817.1:p.Leu351=
XM_005274761.3:c.1056G>C XP_005274818.1:p.Leu352=
XM_005274764.3:c.849G>C XP_005274821.1:p.Leu283=
XM_011531203.1:c.903G>C XP_011529505.1:p.Leu301=
XM_011531204.1:c.852G>C XP_011529506.1:p.Leu284=
XM_011531205.1:c.852G>C XP_011529507.1:p.Leu284=
NM_001099856.4:c.1056G>C NP_001093326.2:p.Leu352=
NM_001321396.1:c.852G>C NP_001308325.1:p.Leu284=
NM_001321397.1:c.849G>C NP_001308326.1:p.Leu283=
NM_001099856.6:c.1056G>C NP_001093326.2:p.Leu352=
NM_001099857.4:c.852G>C NP_001093327.1:p.Leu284=
NM_001145255.4:c.616-666G>C NP_001138727.1:n.616-666G>C
NM_001321396.3:c.852G>C NP_001308325.1:p.Leu284=
NM_001321397.3:c.849G>C NP_001308326.1:p.Leu283=
NM_001377312.1:c.852G>C NP_001364241.1:p.Leu284=
NM_001377313.1:c.849G>C NP_001364242.1:p.Leu283=
NM_001377314.1:c.696G>C NP_001364243.1:p.Leu232=
NM_001377315.1:c.483G>C NP_001364244.1:p.Leu161=
NR_165197.1:n.721G>C
NM_001099857.5:c.852G>C MANE Select NP_001093327.1:p.Leu284=