Canonical Allele Identifier: CA379772320
Community Standard Title: NM_000525.4(KCNJ11):c.599T>A (p.Leu200Gln)
Gene: KCNJ11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387493A>T , CM000673.2:g.17387493A>T GRCh38
NC_000011.9:g.17409040A>T , CM000673.1:g.17409040A>T GRCh37
NC_000011.8:g.17365616A>T NCBI36
NG_012446.1:g.6167T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000525.4:c.599T>A MANE Select NP_000516.3:p.Leu200Gln
ENST00000339994.5:c.599T>A MANE Select ENSP00000345708.4:p.Leu200Gln
NM_000525.3:c.599T>A NP_000516.3:p.Leu200Gln
NM_001166290.1:c.338T>A NP_001159762.1:p.Leu113Gln
NM_001166290.2:c.338T>A NP_001159762.1:p.Leu113Gln
NM_001377296.1:c.338T>A NP_001364225.1:p.Leu113Gln
NM_001377297.1:c.338T>A NP_001364226.1:p.Leu113Gln
ENST00000339994.4:c.599T>A ENSP00000345708.4:p.Leu200Gln
ENST00000526912.1:c.338T>A ENSP00000432729.1:p.Leu113Gln
ENST00000528731.1:c.338T>A ENSP00000434755.1:p.Leu113Gln
ENST00000682350.1:c.338T>A ENSP00000508090.1:p.Leu113Gln
ENST00000682764.1:c.338T>A ENSP00000506780.1:p.Leu113Gln
XM_006718226.2:c.338T>A XP_006718289.1:p.Leu113Gln
XM_006718226.3:c.338T>A XP_006718289.1:p.Leu113Gln
XM_017017680.1:c.338T>A XP_016873169.1:p.Leu113Gln
XR_930867.1:n.757T>A
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