Canonical Allele Identifier: CA2794083791
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128865528G>A , CM000673.2:g.128865528G>A GRCh38
NC_000011.9:g.128735423G>A , CM000673.1:g.128735423G>A GRCh37
NC_000011.8:g.128240633G>A NCBI36
NG_009379.1:g.6846C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.-192+1645C>T MANE Select ENSP00000376434.1:n.-192+1645C>T
ENST00000324003.3:c.-192+1645C>T ENSP00000316136.3:n.-192+1645C>T
ENST00000324036.7:c.-192+995C>T ENSP00000316233.3:n.-192+995C>T
ENST00000392665.6:c.-22+1645C>T ENSP00000376433.2:n.-22+1645C>T
ENST00000392666.5:c.-192+1645C>T ENSP00000376434.1:n.-192+1645C>T
ENST00000440599.6:c.-22+995C>T ENSP00000406320.2:n.-22+995C>T
ENST00000531562.1:n.124+1645C>T
NM_153764.2:c.-22+1645C>T NP_722448.1:n.-22+1645C>T
NM_153765.2:c.30+995C>T NP_722449.3:n.30+995C>T
NM_153766.2:c.-192+1645C>T NP_722450.1:n.-192+1645C>T
NM_153767.3:c.-192+995C>T NP_722451.1:n.-192+995C>T
XR_001748442.1:n.3533-1222G>A
NM_153764.3:c.-22+1645C>T NP_722448.1:n.-22+1645C>T
NM_153765.3:c.30+995C>T NP_722449.3:n.30+995C>T
NM_153766.3:c.-192+1645C>T MANE Select NP_722450.1:n.-192+1645C>T
NM_153767.4:c.-192+995C>T NP_722451.1:n.-192+995C>T