Canonical Allele Identifier: CA230599878
Gene: KCNJ1 HGNC NCBI

Linked Data

dbSNP Id: rs776098872

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128865402T>C , CM000673.2:g.128865402T>C GRCh38
NC_000011.9:g.128735297T>C , CM000673.1:g.128735297T>C GRCh37
NC_000011.8:g.128240507T>C NCBI36
NG_009379.1:g.6972A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.-192+1771A>G MANE Select ENSP00000376434.1:n.-192+1771A>G
ENST00000324003.3:c.-192+1771A>G ENSP00000316136.3:n.-192+1771A>G
ENST00000324036.7:c.-192+1121A>G ENSP00000316233.3:n.-192+1121A>G
ENST00000392665.6:c.-22+1771A>G ENSP00000376433.2:n.-22+1771A>G
ENST00000392666.5:c.-192+1771A>G ENSP00000376434.1:n.-192+1771A>G
ENST00000440599.6:c.-22+1121A>G ENSP00000406320.2:n.-22+1121A>G
ENST00000531562.1:n.124+1771A>G
NM_153764.2:c.-22+1771A>G NP_722448.1:n.-22+1771A>G
NM_153765.2:c.30+1121A>G NP_722449.3:n.30+1121A>G
NM_153766.2:c.-192+1771A>G NP_722450.1:n.-192+1771A>G
NM_153767.3:c.-192+1121A>G NP_722451.1:n.-192+1121A>G
XR_001748442.1:n.3533-1348T>C
NM_153764.3:c.-22+1771A>G NP_722448.1:n.-22+1771A>G
NM_153765.3:c.30+1121A>G NP_722449.3:n.30+1121A>G
NM_153766.3:c.-192+1771A>G MANE Select NP_722450.1:n.-192+1771A>G
NM_153767.4:c.-192+1121A>G NP_722451.1:n.-192+1121A>G