Canonical Allele Identifier: CA219234

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 68238
• ClinVar RCV Id: RCV000059074
• dbSNP Id: rs179363869
• MyVariant Identifiers: chrX:g.153789911T>C (hg19) ; chrX:g.154561696T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154561696T>C , CM000685.2:g.154561696T>C	GRCh38
NC_000023.10:g.153789911T>C , CM000685.1:g.153789911T>C	GRCh37
NC_000023.9:g.153443105T>C	NCBI36
NG_009896.1:g.24453T>C , LRG_70:g.24453T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413620.6:c.644T>C	ENSP00000398579.2:p.Leu215Pro
ENST00000422680.6:c.680T>C	ENSP00000390368.3:p.Leu227Pro
ENST00000440286.6:c.680T>C	ENSP00000394934.2:p.Leu227Pro
ENST00000445622.6:c.680T>C	ENSP00000395205.2:p.Leu227Pro
ENST00000615186.5:c.278T>C	ENSP00000479144.2:p.Leu93Pro
ENST00000686774.1:c.*61T>C	ENSP00000510218.1:n.*61T>C
ENST00000687445.1:n.1052T>C
ENST00000689906.1:c.527T>C	ENSP00000508630.1:p.Leu176Pro
ENST00000692948.1:c.737T>C	ENSP00000508773.1:p.Leu246Pro
ENST00000693029.1:n.1055T>C
ENST00000594239.6:c.680T>C MANE Select	ENSP00000471166.1:p.Leu227Pro
ENST00000440286.5:c.680T>C	ENSP00000394934.1:p.Leu227Pro
ENST00000594239.5:c.680T>C	ENSP00000471166.1:p.Leu227Pro
ENST00000611071.4:c.680T>C	ENSP00000479662.1:p.Leu227Pro
ENST00000611176.4:c.527T>C	ENSP00000478616.1:p.Leu176Pro
ENST00000612051.1:c.*672T>C	ENSP00000480431.1:n.*672T>C
ENST00000615186.4:c.278T>C	ENSP00000479144.1:p.Leu93Pro
ENST00000615874.4:c.677T>C	ENSP00000483381.1:p.Leu226Pro
ENST00000617207.4:c.677T>C	ENSP00000484023.1:p.Leu226Pro
ENST00000617838.1:n.200-1114T>C
ENST00000618670.4:c.884T>C	ENSP00000483825.1:p.Leu295Pro
ENST00000619941.4:c.680T>C	ENSP00000478979.1:p.Leu227Pro
NM_001099856.3:c.884T>C	NP_001093326.2:p.Leu295Pro
NM_001099857.2:c.680T>C	NP_001093327.1:p.Leu227Pro
NM_001145255.2:c.527T>C	NP_001138727.1:p.Leu176Pro
NM_003639.4:c.680T>C	NP_003630.1:p.Leu227Pro
XM_005274760.3:c.881T>C	XP_005274817.1:p.Leu294Pro
XM_005274761.3:c.884T>C	XP_005274818.1:p.Leu295Pro
XM_005274764.3:c.677T>C	XP_005274821.1:p.Leu226Pro
XM_011531203.1:c.731T>C	XP_011529505.1:p.Leu244Pro
XM_011531204.1:c.680T>C	XP_011529506.1:p.Leu227Pro
XM_011531205.1:c.680T>C	XP_011529507.1:p.Leu227Pro
NM_001099856.4:c.884T>C	NP_001093326.2:p.Leu295Pro
NM_001321396.1:c.680T>C	NP_001308325.1:p.Leu227Pro
NM_001321397.1:c.677T>C	NP_001308326.1:p.Leu226Pro
NM_001099856.6:c.884T>C	NP_001093326.2:p.Leu295Pro
NM_001099857.4:c.680T>C	NP_001093327.1:p.Leu227Pro
NM_001145255.4:c.527T>C	NP_001138727.1:p.Leu176Pro
NM_001321396.3:c.680T>C	NP_001308325.1:p.Leu227Pro
NM_001321397.3:c.677T>C	NP_001308326.1:p.Leu226Pro
NM_001377312.1:c.680T>C	NP_001364241.1:p.Leu227Pro
NM_001377313.1:c.677T>C	NP_001364242.1:p.Leu226Pro
NM_001377314.1:c.524T>C	NP_001364243.1:p.Leu175Pro
NM_001377315.1:c.400-1114T>C	NP_001364244.1:n.400-1114T>C
NR_165197.1:n.549T>C
NM_001099857.5:c.680T>C MANE Select	NP_001093327.1:p.Leu227Pro