Canonical Allele Identifier: CA230629123

Gene: KCNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840126G>A , CM000673.2:g.128840126G>A	GRCh38
NC_000011.9:g.128710021G>A , CM000673.1:g.128710021G>A	GRCh37
NC_000011.8:g.128215231G>A	NCBI36
NG_009379.1:g.32248C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153766.3:c.118C>T MANE Select	NP_722450.1:p.Gln40Ter
ENST00000392666.6:c.118C>T MANE Select	ENSP00000376434.1:p.Gln40Ter
NM_000220.4:c.175C>T	NP_000211.1:p.Gln59Ter
NM_000220.6:c.175C>T	NP_000211.1:p.Gln59Ter
NM_153764.2:c.118C>T	NP_722448.1:p.Gln40Ter
NM_153764.3:c.118C>T	NP_722448.1:p.Gln40Ter
NM_153765.2:c.169C>T	NP_722449.3:p.Gln57Ter
NM_153765.3:c.169C>T	NP_722449.3:p.Gln57Ter
NM_153766.2:c.118C>T	NP_722450.1:p.Gln40Ter
NM_153767.3:c.118C>T	NP_722451.1:p.Gln40Ter
NM_153767.4:c.118C>T	NP_722451.1:p.Gln40Ter
ENST00000324003.3:c.118C>T	ENSP00000316136.3:p.Gln40Ter
ENST00000324036.7:c.118C>T	ENSP00000316233.3:p.Gln40Ter
ENST00000392664.2:c.175C>T	ENSP00000376432.2:p.Gln59Ter
ENST00000392665.6:c.118C>T	ENSP00000376433.2:p.Gln40Ter
ENST00000392666.5:c.118C>T	ENSP00000376434.1:p.Gln40Ter
ENST00000440599.6:c.118C>T	ENSP00000406320.2:p.Gln40Ter
ENST00000531562.1:n.463C>T