Canonical Allele Identifier: CA383243712
Gene: KCNJ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839415A>C , CM000673.2:g.128839415A>C GRCh38
NC_000011.9:g.128709310A>C , CM000673.1:g.128709310A>C GRCh37
NC_000011.8:g.128214520A>C NCBI36
NG_009379.1:g.32959T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.829T>G MANE Select ENSP00000376434.1:p.Phe277Val
ENST00000324036.7:c.829T>G ENSP00000316233.3:p.Phe277Val
ENST00000392664.2:c.886T>G ENSP00000376432.2:p.Phe296Val
ENST00000392665.6:c.829T>G ENSP00000376433.2:p.Phe277Val
ENST00000392666.5:c.829T>G ENSP00000376434.1:p.Phe277Val
ENST00000440599.6:c.829T>G ENSP00000406320.2:p.Phe277Val
NM_000220.4:c.886T>G NP_000211.1:p.Phe296Val
NM_153764.2:c.829T>G NP_722448.1:p.Phe277Val
NM_153765.2:c.880T>G NP_722449.3:p.Phe294Val
NM_153766.2:c.829T>G NP_722450.1:p.Phe277Val
NM_153767.3:c.829T>G NP_722451.1:p.Phe277Val
NM_000220.6:c.886T>G NP_000211.1:p.Phe296Val
NM_153764.3:c.829T>G NP_722448.1:p.Phe277Val
NM_153765.3:c.880T>G NP_722449.3:p.Phe294Val
NM_153766.3:c.829T>G MANE Select NP_722450.1:p.Phe277Val
NM_153767.4:c.829T>G NP_722451.1:p.Phe277Val