Canonical Allele Identifier: CA379770329

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2725519
• ClinVar RCV Id: RCV003554606
• MyVariant Identifiers: chr11:g.17408795C>G (hg19) ; chr11:g.17387248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387248C>G , CM000673.2:g.17387248C>G	GRCh38
NC_000011.9:g.17408795C>G , CM000673.1:g.17408795C>G	GRCh37
NC_000011.8:g.17365371C>G	NCBI36
NG_012446.1:g.6412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.583G>C	ENSP00000508090.1:p.Glu195Gln
ENST00000682764.1:c.583G>C	ENSP00000506780.1:p.Glu195Gln
ENST00000339994.5:c.844G>C MANE Select	ENSP00000345708.4:p.Glu282Gln
ENST00000339994.4:c.844G>C	ENSP00000345708.4:p.Glu282Gln
ENST00000528731.1:c.583G>C	ENSP00000434755.1:p.Glu195Gln
NM_000525.3:c.844G>C	NP_000516.3:p.Glu282Gln
NM_001166290.1:c.583G>C	NP_001159762.1:p.Glu195Gln
XM_006718226.2:c.583G>C	XP_006718289.1:p.Glu195Gln
XR_930867.1:n.1002G>C
XM_006718226.3:c.583G>C	XP_006718289.1:p.Glu195Gln
XM_017017680.1:c.583G>C	XP_016873169.1:p.Glu195Gln
NM_001166290.2:c.583G>C	NP_001159762.1:p.Glu195Gln
NM_001377296.1:c.583G>C	NP_001364225.1:p.Glu195Gln
NM_001377297.1:c.583G>C	NP_001364226.1:p.Glu195Gln
NM_000525.4:c.844G>C MANE Select	NP_000516.3:p.Glu282Gln