Canonical Allele Identifier: CA284834
Gene: IKBKAP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6085
dbSNP Id: rs111033171

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.108899816A>G , CM000671.2:g.108899816A>G GRCh38
NC_000009.10:g.110701917A>G NCBI36
NC_000009.11:g.111662096A>G , CM000671.1:g.111662096A>G GRCh37
NG_008788.1:g.39513T>C , LRG_251:g.39513T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374647.9:c.2204+6T>C ENSP00000363779.5:p.=
ENST00000537196.1:c.1157+6T>C ENSP00000439367.1:p.=
NM_003640.3:c.2204+6T>C , LRG_251t1:c.2204+6T>C NP_003631.2:p.=
XM_005252285.2:c.1862+6T>C XP_005252342.1:p.=
XM_011519136.1:c.2204+6T>C XP_011517438.1:p.=
XM_011519137.1:c.1862+6T>C XP_011517439.1:p.=
XR_929859.1:n.2520+6T>C