Canonical Allele Identifier: CA2008251478
Community Standard Title: NM_153766.3(KCNJ1):c.265G= (p.Asp89=)
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839979C= , CM000673.2:g.128839979C= GRCh38
NC_000011.9:g.128709874C= , CM000673.1:g.128709874C= GRCh37
NC_000011.8:g.128215084C= NCBI36
NG_009379.1:g.32395G=

Transcript Alleles

HGVS Amino-acid Change
NM_153766.3:c.265G= MANE Select NP_722450.1:p.Asp89=
ENST00000392666.6:c.265G= MANE Select ENSP00000376434.1:p.Asp89=
NM_000220.4:c.322G= NP_000211.1:p.Asp108=
NM_000220.6:c.322G= NP_000211.1:p.Asp108=
NM_153764.2:c.265G= NP_722448.1:p.Asp89=
NM_153764.3:c.265G= NP_722448.1:p.Asp89=
NM_153765.2:c.316G= NP_722449.3:p.Asp106=
NM_153765.3:c.316G= NP_722449.3:p.Asp106=
NM_153766.2:c.265G= NP_722450.1:p.Asp89=
NM_153767.3:c.265G= NP_722451.1:p.Asp89=
NM_153767.4:c.265G= NP_722451.1:p.Asp89=
ENST00000324003.3:c.265G= ENSP00000316136.3:p.Asp89=
ENST00000324036.7:c.265G= ENSP00000316233.3:p.Asp89=
ENST00000392664.2:c.322G= ENSP00000376432.2:p.Asp108=
ENST00000392665.6:c.265G= ENSP00000376433.2:p.Asp89=
ENST00000392666.5:c.265G= ENSP00000376434.1:p.Asp89=
ENST00000440599.6:c.265G= ENSP00000406320.2:p.Asp89=