Canonical Allele Identifier: CA120152
Gene: KCNJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9155
ClinVar RCV Id: RCV000009725
dbSNP Id: rs104894245

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839644G>C , CM000673.2:g.128839644G>C GRCh38
NC_000011.9:g.128709539G>C , CM000673.1:g.128709539G>C GRCh37
NC_000011.8:g.128214749G>C NCBI36
NG_009379.1:g.32730C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000392666.6:c.600C>G MANE Select ENSP00000376434.1:p.Ser200Arg
ENST00000324036.7:c.600C>G ENSP00000316233.3:p.Ser200Arg
ENST00000392664.2:c.657C>G ENSP00000376432.2:p.Ser219Arg
ENST00000392665.6:c.600C>G ENSP00000376433.2:p.Ser200Arg
ENST00000392666.5:c.600C>G ENSP00000376434.1:p.Ser200Arg
ENST00000440599.6:c.600C>G ENSP00000406320.2:p.Ser200Arg
NM_000220.4:c.657C>G NP_000211.1:p.Ser219Arg
NM_153764.2:c.600C>G NP_722448.1:p.Ser200Arg
NM_153765.2:c.651C>G NP_722449.3:p.Ser217Arg
NM_153766.2:c.600C>G NP_722450.1:p.Ser200Arg
NM_153767.3:c.600C>G NP_722451.1:p.Ser200Arg
NM_000220.6:c.657C>G NP_000211.1:p.Ser219Arg
NM_153764.3:c.600C>G NP_722448.1:p.Ser200Arg
NM_153765.3:c.651C>G NP_722449.3:p.Ser217Arg
NM_153766.3:c.600C>G MANE Select NP_722450.1:p.Ser200Arg
NM_153767.4:c.600C>G NP_722451.1:p.Ser200Arg