Canonical Allele Identifier: CA5902229

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 435556
• ClinVar RCV Id: RCV000500391 ; RCV002227171 ; RCV003993989
• dbSNP Id: rs750414160
• ExAC: 11:17408771 C / T
• gnomAD v2: 11-17408771-C-T
• gnomAD v3: 11-17387224-C-T
• gnomAD v4: 11-17387224-C-T
• MyVariant Identifiers: chr11:g.17408771C>T (hg19) ; chr11:g.17387224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387224C>T , CM000673.2:g.17387224C>T	GRCh38
NC_000011.9:g.17408771C>T , CM000673.1:g.17408771C>T	GRCh37
NC_000011.8:g.17365347C>T	NCBI36
NG_012446.1:g.6436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.607G>A	ENSP00000508090.1:p.Val203Met
ENST00000682764.1:c.607G>A	ENSP00000506780.1:p.Val203Met
ENST00000339994.5:c.868G>A MANE Select	ENSP00000345708.4:p.Val290Met
ENST00000339994.4:c.868G>A	ENSP00000345708.4:p.Val290Met
ENST00000528731.1:c.607G>A	ENSP00000434755.1:p.Val203Met
NM_000525.3:c.868G>A	NP_000516.3:p.Val290Met
NM_001166290.1:c.607G>A	NP_001159762.1:p.Val203Met
XM_006718226.2:c.607G>A	XP_006718289.1:p.Val203Met
XR_930867.1:n.1026G>A
XM_006718226.3:c.607G>A	XP_006718289.1:p.Val203Met
XM_017017680.1:c.607G>A	XP_016873169.1:p.Val203Met
NM_001166290.2:c.607G>A	NP_001159762.1:p.Val203Met
NM_001377296.1:c.607G>A	NP_001364225.1:p.Val203Met
NM_001377297.1:c.607G>A	NP_001364226.1:p.Val203Met
NM_000525.4:c.868G>A MANE Select	NP_000516.3:p.Val290Met