Canonical Allele Identifier: CA473515410
Gene: KCNJ11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.17408838G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387291G>T , CM000673.2:g.17387291G>T GRCh38
NC_000011.9:g.17408838G>T , CM000673.1:g.17408838G>T GRCh37
NC_000011.8:g.17365414G>T NCBI36
NG_012446.1:g.6369C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682350.1:c.540C>A ENSP00000508090.1:p.Leu180=
ENST00000682764.1:c.540C>A ENSP00000506780.1:p.Leu180=
ENST00000339994.5:c.801C>A MANE Select ENSP00000345708.4:p.Leu267=
ENST00000339994.4:c.801C>A ENSP00000345708.4:p.Leu267=
ENST00000528731.1:c.540C>A ENSP00000434755.1:p.Leu180=
NM_000525.3:c.801C>A NP_000516.3:p.Leu267=
NM_001166290.1:c.540C>A NP_001159762.1:p.Leu180=
XM_006718226.2:c.540C>A XP_006718289.1:p.Leu180=
XR_930867.1:n.959C>A
XM_006718226.3:c.540C>A XP_006718289.1:p.Leu180=
XM_017017680.1:c.540C>A XP_016873169.1:p.Leu180=
NM_001166290.2:c.540C>A NP_001159762.1:p.Leu180=
NM_001377296.1:c.540C>A NP_001364225.1:p.Leu180=
NM_001377297.1:c.540C>A NP_001364226.1:p.Leu180=
NM_000525.4:c.801C>A MANE Select NP_000516.3:p.Leu267=