Canonical Allele Identifier: CA415215214
Gene: IKBKG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154561705T>C , CM000685.2:g.154561705T>C GRCh38
NC_000023.10:g.153789920T>C , CM000685.1:g.153789920T>C GRCh37
NC_000023.9:g.153443114T>C NCBI36
NG_009896.1:g.24462T>C , LRG_70:g.24462T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.653T>C ENSP00000398579.2:p.Leu218Ser
ENST00000422680.6:c.689T>C ENSP00000390368.3:p.Leu230Ser
ENST00000440286.6:c.689T>C ENSP00000394934.2:p.Leu230Ser
ENST00000445622.6:c.689T>C ENSP00000395205.2:p.Leu230Ser
ENST00000615186.5:c.287T>C ENSP00000479144.2:p.Leu96Ser
ENST00000686774.1:c.*70T>C ENSP00000510218.1:n.*70T>C
ENST00000687445.1:n.1061T>C
ENST00000689906.1:c.536T>C ENSP00000508630.1:p.Leu179Ser
ENST00000692948.1:c.746T>C ENSP00000508773.1:p.Leu249Ser
ENST00000693029.1:n.1064T>C
ENST00000594239.6:c.689T>C MANE Select ENSP00000471166.1:p.Leu230Ser
ENST00000440286.5:c.689T>C ENSP00000394934.1:p.Leu230Ser
ENST00000594239.5:c.689T>C ENSP00000471166.1:p.Leu230Ser
ENST00000611071.4:c.689T>C ENSP00000479662.1:p.Leu230Ser
ENST00000611176.4:c.536T>C ENSP00000478616.1:p.Leu179Ser
ENST00000612051.1:c.*681T>C ENSP00000480431.1:n.*681T>C
ENST00000615186.4:c.287T>C ENSP00000479144.1:p.Leu96Ser
ENST00000615874.4:c.686T>C ENSP00000483381.1:p.Leu229Ser
ENST00000617207.4:c.686T>C ENSP00000484023.1:p.Leu229Ser
ENST00000617838.1:n.200-1105T>C
ENST00000618670.4:c.893T>C ENSP00000483825.1:p.Leu298Ser
ENST00000619941.4:c.689T>C ENSP00000478979.1:p.Leu230Ser
NM_001099856.3:c.893T>C NP_001093326.2:p.Leu298Ser
NM_001099857.2:c.689T>C NP_001093327.1:p.Leu230Ser
NM_001145255.2:c.536T>C NP_001138727.1:p.Leu179Ser
NM_003639.4:c.689T>C NP_003630.1:p.Leu230Ser
XM_005274760.3:c.890T>C XP_005274817.1:p.Leu297Ser
XM_005274761.3:c.893T>C XP_005274818.1:p.Leu298Ser
XM_005274764.3:c.686T>C XP_005274821.1:p.Leu229Ser
XM_011531203.1:c.740T>C XP_011529505.1:p.Leu247Ser
XM_011531204.1:c.689T>C XP_011529506.1:p.Leu230Ser
XM_011531205.1:c.689T>C XP_011529507.1:p.Leu230Ser
NM_001099856.4:c.893T>C NP_001093326.2:p.Leu298Ser
NM_001321396.1:c.689T>C NP_001308325.1:p.Leu230Ser
NM_001321397.1:c.686T>C NP_001308326.1:p.Leu229Ser
NM_001099856.6:c.893T>C NP_001093326.2:p.Leu298Ser
NM_001099857.4:c.689T>C NP_001093327.1:p.Leu230Ser
NM_001145255.4:c.536T>C NP_001138727.1:p.Leu179Ser
NM_001321396.3:c.689T>C NP_001308325.1:p.Leu230Ser
NM_001321397.3:c.686T>C NP_001308326.1:p.Leu229Ser
NM_001377312.1:c.689T>C NP_001364241.1:p.Leu230Ser
NM_001377313.1:c.686T>C NP_001364242.1:p.Leu229Ser
NM_001377314.1:c.533T>C NP_001364243.1:p.Leu178Ser
NM_001377315.1:c.400-1105T>C NP_001364244.1:n.400-1105T>C
NR_165197.1:n.558T>C
NM_001099857.5:c.689T>C MANE Select NP_001093327.1:p.Leu230Ser