Canonical Allele Identifier: CA16043457
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 373928
ClinVar RCV Id: RCV000415398
dbSNP Id: rs1057518775

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387907G>C , CM000673.2:g.17387907G>C GRCh38
NC_000011.9:g.17409454G>C , CM000673.1:g.17409454G>C GRCh37
NC_000011.8:g.17366030G>C NCBI36
NG_012446.1:g.5753C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.-44C>G ENSP00000436479.2:n.-44C>G
ENST00000682350.1:c.-16-61C>G ENSP00000508090.1:n.-16-61C>G
ENST00000682764.1:c.-16-61C>G ENSP00000506780.1:n.-16-61C>G
ENST00000339994.5:c.185C>G MANE Select ENSP00000345708.4:p.Thr62Arg
ENST00000339994.4:c.185C>G ENSP00000345708.4:p.Thr62Arg
ENST00000526912.1:c.-16-61C>G ENSP00000432729.1:n.-16-61C>G
ENST00000528731.1:c.-16-61C>G ENSP00000434755.1:n.-16-61C>G
ENST00000528992.1:c.202C>G
NM_000525.3:c.185C>G NP_000516.3:p.Thr62Arg
NM_001166290.1:c.-16-61C>G NP_001159762.1:n.-16-61C>G
XM_006718226.2:c.-16-61C>G XP_006718289.1:n.-16-61C>G
XR_930867.1:n.343C>G
XM_006718226.3:c.-16-61C>G XP_006718289.1:n.-16-61C>G
XM_017017680.1:c.-16-61C>G XP_016873169.1:n.-16-61C>G
NM_001166290.2:c.-16-61C>G NP_001159762.1:n.-16-61C>G
NM_001377296.1:c.-16-61C>G NP_001364225.1:n.-16-61C>G
NM_001377297.1:c.-16-61C>G NP_001364226.1:n.-16-61C>G
NM_000525.4:c.185C>G MANE Select NP_000516.3:p.Thr62Arg