Canonical Allele Identifier: CA379770307

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2446087
• ClinVar RCV Id: RCV003156441
• dbSNP Id: rs1248339289
• gnomAD v3: 11-17387244-A-T
• gnomAD v4: 11-17387244-A-T
• MyVariant Identifiers: chr11:g.17408791A>T (hg19) ; chr11:g.17387244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387244A>T , CM000673.2:g.17387244A>T	GRCh38
NC_000011.9:g.17408791A>T , CM000673.1:g.17408791A>T	GRCh37
NC_000011.8:g.17365367A>T	NCBI36
NG_012446.1:g.6416T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.587T>A	ENSP00000508090.1:p.Ile196Asn
ENST00000682764.1:c.587T>A	ENSP00000506780.1:p.Ile196Asn
ENST00000339994.5:c.848T>A MANE Select	ENSP00000345708.4:p.Ile283Asn
ENST00000339994.4:c.848T>A	ENSP00000345708.4:p.Ile283Asn
ENST00000528731.1:c.587T>A	ENSP00000434755.1:p.Ile196Asn
NM_000525.3:c.848T>A	NP_000516.3:p.Ile283Asn
NM_001166290.1:c.587T>A	NP_001159762.1:p.Ile196Asn
XM_006718226.2:c.587T>A	XP_006718289.1:p.Ile196Asn
XR_930867.1:n.1006T>A
XM_006718226.3:c.587T>A	XP_006718289.1:p.Ile196Asn
XM_017017680.1:c.587T>A	XP_016873169.1:p.Ile196Asn
NM_001166290.2:c.587T>A	NP_001159762.1:p.Ile196Asn
NM_001377296.1:c.587T>A	NP_001364225.1:p.Ile196Asn
NM_001377297.1:c.587T>A	NP_001364226.1:p.Ile196Asn
NM_000525.4:c.848T>A MANE Select	NP_000516.3:p.Ile283Asn