Canonical Allele Identifier: CA379774100

Gene: KCNJ11

Linked Data

• MyVariant Identifiers: chr11:g.17409262T>C (hg19) ; chr11:g.17387715T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387715T>C , CM000673.2:g.17387715T>C	GRCh38
NC_000011.9:g.17409262T>C , CM000673.1:g.17409262T>C	GRCh37
NC_000011.8:g.17365838T>C	NCBI36
NG_012446.1:g.5945A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.149A>G	ENSP00000436479.2:p.Glu50Gly
ENST00000682350.1:c.116A>G	ENSP00000508090.1:p.Glu39Gly
ENST00000682764.1:c.116A>G	ENSP00000506780.1:p.Glu39Gly
ENST00000339994.5:c.377A>G MANE Select	ENSP00000345708.4:p.Glu126Gly
ENST00000339994.4:c.377A>G	ENSP00000345708.4:p.Glu126Gly
ENST00000526912.1:c.116A>G	ENSP00000432729.1:p.Glu39Gly
ENST00000528731.1:c.116A>G	ENSP00000434755.1:p.Glu39Gly
ENST00000528992.1:c.394A>G
NM_000525.3:c.377A>G	NP_000516.3:p.Glu126Gly
NM_001166290.1:c.116A>G	NP_001159762.1:p.Glu39Gly
XM_006718226.2:c.116A>G	XP_006718289.1:p.Glu39Gly
XR_930867.1:n.535A>G
XM_006718226.3:c.116A>G	XP_006718289.1:p.Glu39Gly
XM_017017680.1:c.116A>G	XP_016873169.1:p.Glu39Gly
NM_001166290.2:c.116A>G	NP_001159762.1:p.Glu39Gly
NM_001377296.1:c.116A>G	NP_001364225.1:p.Glu39Gly
NM_001377297.1:c.116A>G	NP_001364226.1:p.Glu39Gly
NM_000525.4:c.377A>G MANE Select	NP_000516.3:p.Glu126Gly