Canonical Allele Identifier: CA379771489

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387406T>G , CM000673.2:g.17387406T>G	GRCh38
NC_000011.9:g.17408953T>G , CM000673.1:g.17408953T>G	GRCh37
NC_000011.8:g.17365529T>G	NCBI36
NG_012446.1:g.6254A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000525.4:c.686A>C MANE Select	NP_000516.3:p.Glu229Ala
ENST00000339994.5:c.686A>C MANE Select	ENSP00000345708.4:p.Glu229Ala
NM_000525.3:c.686A>C	NP_000516.3:p.Glu229Ala
NM_001166290.1:c.425A>C	NP_001159762.1:p.Glu142Ala
NM_001166290.2:c.425A>C	NP_001159762.1:p.Glu142Ala
NM_001377296.1:c.425A>C	NP_001364225.1:p.Glu142Ala
NM_001377297.1:c.425A>C	NP_001364226.1:p.Glu142Ala
ENST00000339994.4:c.686A>C	ENSP00000345708.4:p.Glu229Ala
ENST00000526912.1:c.425A>C	ENSP00000432729.1:p.Glu142Ala
ENST00000528731.1:c.425A>C	ENSP00000434755.1:p.Glu142Ala
ENST00000682350.1:c.425A>C	ENSP00000508090.1:p.Glu142Ala
ENST00000682764.1:c.425A>C	ENSP00000506780.1:p.Glu142Ala
XM_006718226.2:c.425A>C	XP_006718289.1:p.Glu142Ala
XM_006718226.3:c.425A>C	XP_006718289.1:p.Glu142Ala
XM_017017680.1:c.425A>C	XP_016873169.1:p.Glu142Ala
XR_930867.1:n.844A>C