Canonical Allele Identifier: CA415215784
Gene: IKBKG HGNC NCBI

Linked Data

ClinVar Variation Id: 427148
ClinVar RCV Id: RCV000489030
dbSNP Id: rs1085307986

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154561777G>A , CM000685.2:g.154561777G>A GRCh38
NC_000023.10:g.153789992G>A , CM000685.1:g.153789992G>A GRCh37
NC_000023.9:g.153443186G>A NCBI36
NG_009896.1:g.24534G>A , LRG_70:g.24534G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.725G>A ENSP00000398579.2:p.Arg242Gln
ENST00000422680.6:c.761G>A ENSP00000390368.3:p.Arg254Gln
ENST00000440286.6:c.761G>A ENSP00000394934.2:p.Arg254Gln
ENST00000445622.6:c.761G>A ENSP00000395205.2:p.Arg254Gln
ENST00000615186.5:c.359G>A ENSP00000479144.2:p.Arg120Gln
ENST00000686774.1:c.*142G>A ENSP00000510218.1:n.*142G>A
ENST00000687445.1:n.1133G>A
ENST00000689906.1:c.608G>A ENSP00000508630.1:p.Arg203Gln
ENST00000692948.1:c.818G>A ENSP00000508773.1:p.Arg273Gln
ENST00000693029.1:n.1136G>A
ENST00000594239.6:c.761G>A MANE Select ENSP00000471166.1:p.Arg254Gln
ENST00000594239.5:c.761G>A ENSP00000471166.1:p.Arg254Gln
ENST00000611071.4:c.761G>A ENSP00000479662.1:p.Arg254Gln
ENST00000611176.4:c.608G>A ENSP00000478616.1:p.Arg203Gln
ENST00000612051.1:c.*753G>A ENSP00000480431.1:n.*753G>A
ENST00000615874.4:c.744+14G>A ENSP00000483381.1:n.744+14G>A
ENST00000617207.4:c.758G>A ENSP00000484023.1:p.Arg253Gln
ENST00000617838.1:n.200-1033G>A
ENST00000618670.4:c.965G>A ENSP00000483825.1:p.Arg322Gln
ENST00000619941.4:c.747+14G>A ENSP00000478979.1:n.747+14G>A
NM_001099856.3:c.965G>A NP_001093326.2:p.Arg322Gln
NM_001099857.2:c.761G>A NP_001093327.1:p.Arg254Gln
NM_001145255.2:c.608G>A NP_001138727.1:p.Arg203Gln
NM_003639.4:c.761G>A NP_003630.1:p.Arg254Gln
XM_005274760.3:c.962G>A XP_005274817.1:p.Arg321Gln
XM_005274761.3:c.965G>A XP_005274818.1:p.Arg322Gln
XM_005274764.3:c.758G>A XP_005274821.1:p.Arg253Gln
XM_011531203.1:c.812G>A XP_011529505.1:p.Arg271Gln
XM_011531204.1:c.761G>A XP_011529506.1:p.Arg254Gln
XM_011531205.1:c.761G>A XP_011529507.1:p.Arg254Gln
NM_001099856.4:c.965G>A NP_001093326.2:p.Arg322Gln
NM_001321396.1:c.761G>A NP_001308325.1:p.Arg254Gln
NM_001321397.1:c.758G>A NP_001308326.1:p.Arg253Gln
NM_001099856.6:c.965G>A NP_001093326.2:p.Arg322Gln
NM_001099857.4:c.761G>A NP_001093327.1:p.Arg254Gln
NM_001145255.4:c.608G>A NP_001138727.1:p.Arg203Gln
NM_001321396.3:c.761G>A NP_001308325.1:p.Arg254Gln
NM_001321397.3:c.758G>A NP_001308326.1:p.Arg253Gln
NM_001377312.1:c.761G>A NP_001364241.1:p.Arg254Gln
NM_001377313.1:c.758G>A NP_001364242.1:p.Arg253Gln
NM_001377314.1:c.605G>A NP_001364243.1:p.Arg202Gln
NM_001377315.1:c.400-1033G>A NP_001364244.1:n.400-1033G>A
NR_165197.1:n.630G>A
NM_001099857.5:c.761G>A MANE Select NP_001093327.1:p.Arg254Gln