Canonical Allele Identifier: CA383243230
Gene: KCNJ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839307T>C , CM000673.2:g.128839307T>C GRCh38
NC_000011.9:g.128709202T>C , CM000673.1:g.128709202T>C GRCh37
NC_000011.8:g.128214412T>C NCBI36
NG_009379.1:g.33067A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.937A>G MANE Select ENSP00000376434.1:p.Thr313Ala
ENST00000324036.7:c.937A>G ENSP00000316233.3:p.Thr313Ala
ENST00000392664.2:c.994A>G ENSP00000376432.2:p.Thr332Ala
ENST00000392665.6:c.937A>G ENSP00000376433.2:p.Thr313Ala
ENST00000392666.5:c.937A>G ENSP00000376434.1:p.Thr313Ala
ENST00000440599.6:c.937A>G ENSP00000406320.2:p.Thr313Ala
NM_000220.4:c.994A>G NP_000211.1:p.Thr332Ala
NM_153764.2:c.937A>G NP_722448.1:p.Thr313Ala
NM_153765.2:c.988A>G NP_722449.3:p.Thr330Ala
NM_153766.2:c.937A>G NP_722450.1:p.Thr313Ala
NM_153767.3:c.937A>G NP_722451.1:p.Thr313Ala
NM_000220.6:c.994A>G NP_000211.1:p.Thr332Ala
NM_153764.3:c.937A>G NP_722448.1:p.Thr313Ala
NM_153765.3:c.988A>G NP_722449.3:p.Thr330Ala
NM_153766.3:c.937A>G MANE Select NP_722450.1:p.Thr313Ala
NM_153767.4:c.937A>G NP_722451.1:p.Thr313Ala