Canonical Allele Identifier: CA2008273626
Community Standard Title: NM_153766.3(KCNJ1):c.-191-6216A=
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128857106T= , CM000673.2:g.128857106T= GRCh38
NC_000011.9:g.128727001T= , CM000673.1:g.128727001T= GRCh37
NC_000011.8:g.128232211T= NCBI36
NG_009379.1:g.15268A=

Transcript Alleles

HGVS Amino-acid Change
NM_153766.3:c.-191-6216A= MANE Select NP_722450.1:n.-191-6216A=
ENST00000392666.6:c.-191-6216A= MANE Select ENSP00000376434.1:n.-191-6216A=
NM_153764.2:c.-22+10067A= NP_722448.1:n.-22+10067A=
NM_153764.3:c.-22+10067A= NP_722448.1:n.-22+10067A=
NM_153765.2:c.30+9417A= NP_722449.3:n.30+9417A=
NM_153765.3:c.30+9417A= NP_722449.3:n.30+9417A=
NM_153766.2:c.-191-6216A= NP_722450.1:n.-191-6216A=
NM_153767.3:c.-191-6216A= NP_722451.1:n.-191-6216A=
NM_153767.4:c.-191-6216A= NP_722451.1:n.-191-6216A=
ENST00000324003.3:c.-191-6216A= ENSP00000316136.3:n.-191-6216A=
ENST00000324036.7:c.-191-6216A= ENSP00000316233.3:n.-191-6216A=
ENST00000392665.6:c.-22+10067A= ENSP00000376433.2:n.-22+10067A=
ENST00000392666.5:c.-191-6216A= ENSP00000376434.1:n.-191-6216A=
ENST00000440599.6:c.-22+9417A= ENSP00000406320.2:n.-22+9417A=
ENST00000531562.1:n.125-6186A=
XR_001748442.1:n.3034T=