Canonical Allele Identifier: CA415213920

Gene: IKBKG

Linked Data

• MyVariant Identifiers: chrX:g.153786772T>C (hg19) ; chrX:g.154558557T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154558557T>C , CM000685.2:g.154558557T>C	GRCh38
NC_000023.10:g.153786772T>C , CM000685.1:g.153786772T>C	GRCh37
NC_000023.9:g.153439966T>C	NCBI36
NG_009896.1:g.21314T>C , LRG_70:g.21314T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.389T>C	ENSP00000398579.2:p.Val130Ala
ENST00000422680.6:c.425T>C	ENSP00000390368.3:p.Val142Ala
ENST00000440286.6:c.425T>C	ENSP00000394934.2:p.Val142Ala
ENST00000445622.6:c.425T>C	ENSP00000395205.2:p.Val142Ala
ENST00000615186.5:c.23T>C	ENSP00000479144.2:p.Val8Ala
ENST00000686774.1:c.425T>C	ENSP00000510218.1:p.Val142Ala
ENST00000687445.1:n.797T>C
ENST00000689906.1:c.425T>C	ENSP00000508630.1:p.Val142Ala
ENST00000692816.1:n.800T>C
ENST00000692948.1:c.425T>C	ENSP00000508773.1:p.Val142Ala
ENST00000693029.1:n.800T>C
ENST00000594239.6:c.425T>C MANE Select	ENSP00000471166.1:p.Val142Ala
ENST00000413620.5:c.389T>C	ENSP00000398579.1:p.Val130Ala
ENST00000422680.5:c.425T>C	ENSP00000390368.2:p.Val142Ala
ENST00000440286.5:c.425T>C	ENSP00000394934.1:p.Val142Ala
ENST00000594239.5:c.425T>C	ENSP00000471166.1:p.Val142Ala
ENST00000611071.4:c.425T>C	ENSP00000479662.1:p.Val142Ala
ENST00000611176.4:c.425T>C	ENSP00000478616.1:p.Val142Ala
ENST00000612051.1:c.*417T>C	ENSP00000480431.1:n.*417T>C
ENST00000615186.4:c.23T>C	ENSP00000479144.1:p.Val8Ala
ENST00000615874.4:c.422T>C	ENSP00000483381.1:p.Val141Ala
ENST00000617207.4:c.422T>C	ENSP00000484023.1:p.Val141Ala
ENST00000617838.1:n.200-4253T>C
ENST00000618670.4:c.629T>C	ENSP00000483825.1:p.Val210Ala
ENST00000619941.4:c.425T>C	ENSP00000478979.1:p.Val142Ala
NM_001099856.3:c.629T>C	NP_001093326.2:p.Val210Ala
NM_001099857.2:c.425T>C	NP_001093327.1:p.Val142Ala
NM_001145255.2:c.425T>C	NP_001138727.1:p.Val142Ala
NM_003639.4:c.425T>C	NP_003630.1:p.Val142Ala
XM_005274760.3:c.626T>C	XP_005274817.1:p.Val209Ala
XM_005274761.3:c.629T>C	XP_005274818.1:p.Val210Ala
XM_005274764.3:c.422T>C	XP_005274821.1:p.Val141Ala
XM_011531203.1:c.629T>C	XP_011529505.1:p.Val210Ala
XM_011531204.1:c.425T>C	XP_011529506.1:p.Val142Ala
XM_011531205.1:c.425T>C	XP_011529507.1:p.Val142Ala
XM_011531206.1:c.629T>C	XP_011529508.1:p.Val210Ala
XM_011531207.1:c.629T>C	XP_011529509.1:p.Val210Ala
NM_001099856.4:c.629T>C	NP_001093326.2:p.Val210Ala
NM_001321396.1:c.425T>C	NP_001308325.1:p.Val142Ala
NM_001321397.1:c.422T>C	NP_001308326.1:p.Val141Ala
NM_001099856.6:c.629T>C	NP_001093326.2:p.Val210Ala
NM_001099857.4:c.425T>C	NP_001093327.1:p.Val142Ala
NM_001145255.4:c.425T>C	NP_001138727.1:p.Val142Ala
NM_001321396.3:c.425T>C	NP_001308325.1:p.Val142Ala
NM_001321397.3:c.422T>C	NP_001308326.1:p.Val141Ala
NM_001377312.1:c.425T>C	NP_001364241.1:p.Val142Ala
NM_001377313.1:c.422T>C	NP_001364242.1:p.Val141Ala
NM_001377314.1:c.422T>C	NP_001364243.1:p.Val141Ala
NM_001377315.1:c.399+2181T>C	NP_001364244.1:n.399+2181T>C
NR_165197.1:n.540+2181T>C
NM_001099857.5:c.425T>C MANE Select	NP_001093327.1:p.Val142Ala