Canonical Allele Identifier: CA379770621
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387292A>C , CM000673.2:g.17387292A>C GRCh38
NC_000011.9:g.17408839A>C , CM000673.1:g.17408839A>C GRCh37
NC_000011.8:g.17365415A>C NCBI36
NG_012446.1:g.6368T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.539T>G ENSP00000508090.1:p.Leu180Arg
ENST00000682764.1:c.539T>G ENSP00000506780.1:p.Leu180Arg
ENST00000339994.5:c.800T>G MANE Select ENSP00000345708.4:p.Leu267Arg
ENST00000339994.4:c.800T>G ENSP00000345708.4:p.Leu267Arg
ENST00000528731.1:c.539T>G ENSP00000434755.1:p.Leu180Arg
NM_000525.3:c.800T>G NP_000516.3:p.Leu267Arg
NM_001166290.1:c.539T>G NP_001159762.1:p.Leu180Arg
XM_006718226.2:c.539T>G XP_006718289.1:p.Leu180Arg
XR_930867.1:n.958T>G
XM_006718226.3:c.539T>G XP_006718289.1:p.Leu180Arg
XM_017017680.1:c.539T>G XP_016873169.1:p.Leu180Arg
NM_001166290.2:c.539T>G NP_001159762.1:p.Leu180Arg
NM_001377296.1:c.539T>G NP_001364225.1:p.Leu180Arg
NM_001377297.1:c.539T>G NP_001364226.1:p.Leu180Arg
NM_000525.4:c.800T>G MANE Select NP_000516.3:p.Leu267Arg