Canonical Allele Identifier: CA13402574
Gene: KCNJ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128863066G>T , CM000673.2:g.128863066G>T GRCh38
NC_000011.9:g.128732961G>T , CM000673.1:g.128732961G>T GRCh37
NC_000011.8:g.128238171G>T NCBI36
NG_009379.1:g.9308C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.-192+4107C>A MANE Select ENSP00000376434.1:n.-192+4107C>A
ENST00000324003.3:c.-192+4107C>A ENSP00000316136.3:n.-192+4107C>A
ENST00000324036.7:c.-192+3457C>A ENSP00000316233.3:n.-192+3457C>A
ENST00000392665.6:c.-22+4107C>A ENSP00000376433.2:n.-22+4107C>A
ENST00000392666.5:c.-192+4107C>A ENSP00000376434.1:n.-192+4107C>A
ENST00000440599.6:c.-22+3457C>A ENSP00000406320.2:n.-22+3457C>A
ENST00000531562.1:n.124+4107C>A
NM_153764.2:c.-22+4107C>A NP_722448.1:n.-22+4107C>A
NM_153765.2:c.30+3457C>A NP_722449.3:n.30+3457C>A
NM_153766.2:c.-192+4107C>A NP_722450.1:n.-192+4107C>A
NM_153767.3:c.-192+3457C>A NP_722451.1:n.-192+3457C>A
XR_001748442.1:n.3419-831G>T
NM_153764.3:c.-22+4107C>A NP_722448.1:n.-22+4107C>A
NM_153765.3:c.30+3457C>A NP_722449.3:n.30+3457C>A
NM_153766.3:c.-192+4107C>A MANE Select NP_722450.1:n.-192+4107C>A
NM_153767.4:c.-192+3457C>A NP_722451.1:n.-192+3457C>A
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