Canonical Allele Identifier: CA379770134

Gene: KCNJ11

Linked Data

• dbSNP Id: rs780957825
• MyVariant Identifiers: chr11:g.17408758G>C (hg19) ; chr11:g.17387211G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387211G>C , CM000673.2:g.17387211G>C	GRCh38
NC_000011.9:g.17408758G>C , CM000673.1:g.17408758G>C	GRCh37
NC_000011.8:g.17365334G>C	NCBI36
NG_012446.1:g.6449C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.620C>G	ENSP00000508090.1:p.Thr207Arg
ENST00000682764.1:c.620C>G	ENSP00000506780.1:p.Thr207Arg
ENST00000339994.5:c.881C>G MANE Select	ENSP00000345708.4:p.Thr294Arg
ENST00000339994.4:c.881C>G	ENSP00000345708.4:p.Thr294Arg
ENST00000528731.1:c.620C>G	ENSP00000434755.1:p.Thr207Arg
NM_000525.3:c.881C>G	NP_000516.3:p.Thr294Arg
NM_001166290.1:c.620C>G	NP_001159762.1:p.Thr207Arg
XM_006718226.2:c.620C>G	XP_006718289.1:p.Thr207Arg
XR_930867.1:n.1039C>G
XM_006718226.3:c.620C>G	XP_006718289.1:p.Thr207Arg
XM_017017680.1:c.620C>G	XP_016873169.1:p.Thr207Arg
NM_001166290.2:c.620C>G	NP_001159762.1:p.Thr207Arg
NM_001377296.1:c.620C>G	NP_001364225.1:p.Thr207Arg
NM_001377297.1:c.620C>G	NP_001364226.1:p.Thr207Arg
NM_000525.4:c.881C>G MANE Select	NP_000516.3:p.Thr294Arg