Canonical Allele Identifier: CA5902288

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 877702
• ClinVar RCV Id: RCV001103639 ; RCV001103640 ; RCV001108793 ; RCV002227246
• dbSNP Id: rs529884745
• ExAC: 11:17409188 C / T
• gnomAD v2: 11-17409188-C-T
• gnomAD v3: 11-17387641-C-T
• gnomAD v4: 11-17387641-C-T
• COSMIC: COSM5469552
• MyVariant Identifiers: chr11:g.17409188C>T (hg19) ; chr11:g.17387641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387641C>T , CM000673.2:g.17387641C>T	GRCh38
NC_000011.9:g.17409188C>T , CM000673.1:g.17409188C>T	GRCh37
NC_000011.8:g.17365764C>T	NCBI36
NG_012446.1:g.6019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.190G>A	ENSP00000508090.1:p.Val64Met
ENST00000682764.1:c.190G>A	ENSP00000506780.1:p.Val64Met
ENST00000339994.5:c.451G>A MANE Select	ENSP00000345708.4:p.Val151Met
ENST00000339994.4:c.451G>A	ENSP00000345708.4:p.Val151Met
ENST00000526912.1:c.190G>A	ENSP00000432729.1:p.Val64Met
ENST00000528731.1:c.190G>A	ENSP00000434755.1:p.Val64Met
NM_000525.3:c.451G>A	NP_000516.3:p.Val151Met
NM_001166290.1:c.190G>A	NP_001159762.1:p.Val64Met
XM_006718226.2:c.190G>A	XP_006718289.1:p.Val64Met
XR_930867.1:n.609G>A
XM_006718226.3:c.190G>A	XP_006718289.1:p.Val64Met
XM_017017680.1:c.190G>A	XP_016873169.1:p.Val64Met
NM_001166290.2:c.190G>A	NP_001159762.1:p.Val64Met
NM_001377296.1:c.190G>A	NP_001364225.1:p.Val64Met
NM_001377297.1:c.190G>A	NP_001364226.1:p.Val64Met
NM_000525.4:c.451G>A MANE Select	NP_000516.3:p.Val151Met