Canonical Allele Identifier: CA1955119346

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387652A= , CM000673.2:g.17387652A=	GRCh38
NC_000011.9:g.17409199A= , CM000673.1:g.17409199A=	GRCh37
NC_000011.8:g.17365775A=	NCBI36
NG_012446.1:g.6008T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000525.4:c.440T= MANE Select	NP_000516.3:p.Leu147=
ENST00000339994.5:c.440T= MANE Select	ENSP00000345708.4:p.Leu147=
NM_000525.3:c.440T=	NP_000516.3:p.Leu147=
NM_001166290.1:c.179T=	NP_001159762.1:p.Leu60=
NM_001166290.2:c.179T=	NP_001159762.1:p.Leu60=
NM_001377296.1:c.179T=	NP_001364225.1:p.Leu60=
NM_001377297.1:c.179T=	NP_001364226.1:p.Leu60=
ENST00000339994.4:c.440T=	ENSP00000345708.4:p.Leu147=
ENST00000526912.1:c.179T=	ENSP00000432729.1:p.Leu60=
ENST00000528731.1:c.179T=	ENSP00000434755.1:p.Leu60=
ENST00000528992.1:c.457T=
ENST00000528992.2:c.212T=	ENSP00000436479.2:p.Leu71=
ENST00000682350.1:c.179T=	ENSP00000508090.1:p.Leu60=
ENST00000682764.1:c.179T=	ENSP00000506780.1:p.Leu60=
XM_006718226.2:c.179T=	XP_006718289.1:p.Leu60=
XM_006718226.3:c.179T=	XP_006718289.1:p.Leu60=
XM_017017680.1:c.179T=	XP_016873169.1:p.Leu60=
XR_930867.1:n.598T=