Canonical Allele Identifier: CA383243594
Gene: KCNJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 988597
ClinVar RCV Id: RCV001270151
dbSNP Id: rs762988627

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839402G>C , CM000673.2:g.128839402G>C GRCh38
NC_000011.9:g.128709297G>C , CM000673.1:g.128709297G>C GRCh37
NC_000011.8:g.128214507G>C NCBI36
NG_009379.1:g.32972C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.842C>G MANE Select ENSP00000376434.1:p.Thr281Arg
ENST00000324036.7:c.842C>G ENSP00000316233.3:p.Thr281Arg
ENST00000392664.2:c.899C>G ENSP00000376432.2:p.Thr300Arg
ENST00000392665.6:c.842C>G ENSP00000376433.2:p.Thr281Arg
ENST00000392666.5:c.842C>G ENSP00000376434.1:p.Thr281Arg
ENST00000440599.6:c.842C>G ENSP00000406320.2:p.Thr281Arg
NM_000220.4:c.899C>G NP_000211.1:p.Thr300Arg
NM_153764.2:c.842C>G NP_722448.1:p.Thr281Arg
NM_153765.2:c.893C>G NP_722449.3:p.Thr298Arg
NM_153766.2:c.842C>G NP_722450.1:p.Thr281Arg
NM_153767.3:c.842C>G NP_722451.1:p.Thr281Arg
NM_000220.6:c.899C>G NP_000211.1:p.Thr300Arg
NM_153764.3:c.842C>G NP_722448.1:p.Thr281Arg
NM_153765.3:c.893C>G NP_722449.3:p.Thr298Arg
NM_153766.3:c.842C>G MANE Select NP_722450.1:p.Thr281Arg
NM_153767.4:c.842C>G NP_722451.1:p.Thr281Arg