Canonical Allele Identifier: CA658656123

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 478917
• ClinVar RCV Id: RCV000560919 ; RCV002226716
• dbSNP Id: rs1554901596
• MyVariant Identifiers: chr11:g.17408672dupC (hg19) ; chr11:g.17387125dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387126dup , CM000673.2:g.17387126dup	GRCh38
NC_000011.9:g.17408673dup , CM000673.1:g.17408673dup	GRCh37
NC_000011.8:g.17365249dup	NCBI36
NG_012446.1:g.6535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.706dup	ENSP00000508090.1:p.Asp236GlyfsTer28
ENST00000682764.1:c.706dup	ENSP00000506780.1:p.Asp236GlyfsTer28
ENST00000339994.5:c.967dup MANE Select	ENSP00000345708.4:p.Asp323GlyfsTer28
ENST00000339994.4:c.967dup	ENSP00000345708.4:p.Asp323GlyfsTer28
ENST00000528731.1:c.706dup	ENSP00000434755.1:p.Asp236GlyfsTer28
NM_000525.3:c.967dup	NP_000516.3:p.Asp323GlyfsTer28
NM_001166290.1:c.706dup	NP_001159762.1:p.Asp236GlyfsTer28
XM_006718226.2:c.706dup	XP_006718289.1:p.Asp236GlyfsTer28
XR_930867.1:n.1125dup
XM_006718226.3:c.706dup	XP_006718289.1:p.Asp236GlyfsTer28
XM_017017680.1:c.706dup	XP_016873169.1:p.Asp236GlyfsTer28
NM_001166290.2:c.706dup	NP_001159762.1:p.Asp236GlyfsTer28
NM_001377296.1:c.706dup	NP_001364225.1:p.Asp236GlyfsTer28
NM_001377297.1:c.706dup	NP_001364226.1:p.Asp236GlyfsTer28
NM_000525.4:c.967dup MANE Select	NP_000516.3:p.Asp323GlyfsTer28