Canonical Allele Identifier: CA218399632
Community Standard Title: NM_000525.4(KCNJ11):c.736G>A (p.Gly246Ser)
Gene: KCNJ11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387356C>T , CM000673.2:g.17387356C>T GRCh38
NC_000011.9:g.17408903C>T , CM000673.1:g.17408903C>T GRCh37
NC_000011.8:g.17365479C>T NCBI36
NG_012446.1:g.6304G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.736G>A MANE Select NP_000516.3:p.Gly246Ser
ENST00000339994.5:c.736G>A MANE Select ENSP00000345708.4:p.Gly246Ser
NM_000525.3:c.736G>A NP_000516.3:p.Gly246Ser
NM_001166290.1:c.475G>A NP_001159762.1:p.Gly159Ser
NM_001166290.2:c.475G>A NP_001159762.1:p.Gly159Ser
NM_001377296.1:c.475G>A NP_001364225.1:p.Gly159Ser
NM_001377297.1:c.475G>A NP_001364226.1:p.Gly159Ser
ENST00000339994.4:c.736G>A ENSP00000345708.4:p.Gly246Ser
ENST00000528731.1:c.475G>A ENSP00000434755.1:p.Gly159Ser
ENST00000682350.1:c.475G>A ENSP00000508090.1:p.Gly159Ser
ENST00000682764.1:c.475G>A ENSP00000506780.1:p.Gly159Ser
XM_006718226.2:c.475G>A XP_006718289.1:p.Gly159Ser
XM_006718226.3:c.475G>A XP_006718289.1:p.Gly159Ser
XM_017017680.1:c.475G>A XP_016873169.1:p.Gly159Ser
XR_930867.1:n.894G>A
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