Canonical Allele Identifier: CA120164

Gene: KCNJ1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839929A>T , CM000673.2:g.128839929A>T	GRCh38
NC_000011.9:g.128709824A>T , CM000673.1:g.128709824A>T	GRCh37
NC_000011.8:g.128215034A>T	NCBI36
NG_009379.1:g.32445T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.315T>A MANE Select	ENSP00000376434.1:p.Asn105Lys
ENST00000324003.3:c.315T>A	ENSP00000316136.3:p.Asn105Lys
ENST00000324036.7:c.315T>A	ENSP00000316233.3:p.Asn105Lys
ENST00000392664.2:c.372T>A	ENSP00000376432.2:p.Asn124Lys
ENST00000392665.6:c.315T>A	ENSP00000376433.2:p.Asn105Lys
ENST00000392666.5:c.315T>A	ENSP00000376434.1:p.Asn105Lys
ENST00000440599.6:c.315T>A	ENSP00000406320.2:p.Asn105Lys
NM_000220.4:c.372T>A	NP_000211.1:p.Asn124Lys
NM_153764.2:c.315T>A	NP_722448.1:p.Asn105Lys
NM_153765.2:c.366T>A	NP_722449.3:p.Asn122Lys
NM_153766.2:c.315T>A	NP_722450.1:p.Asn105Lys
NM_153767.3:c.315T>A	NP_722451.1:p.Asn105Lys
NM_000220.6:c.372T>A	NP_000211.1:p.Asn124Lys
NM_153764.3:c.315T>A	NP_722448.1:p.Asn105Lys
NM_153765.3:c.366T>A	NP_722449.3:p.Asn122Lys
NM_153766.3:c.315T>A MANE Select	NP_722450.1:p.Asn105Lys
NM_153767.4:c.315T>A	NP_722451.1:p.Asn105Lys