Canonical Allele Identifier: CA383243892
Gene: KCNJ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839458C>T , CM000673.2:g.128839458C>T GRCh38
NC_000011.9:g.128709353C>T , CM000673.1:g.128709353C>T GRCh37
NC_000011.8:g.128214563C>T NCBI36
NG_009379.1:g.32916G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.786G>A MANE Select ENSP00000376434.1:p.Met262Ile
ENST00000324036.7:c.786G>A ENSP00000316233.3:p.Met262Ile
ENST00000392664.2:c.843G>A ENSP00000376432.2:p.Met281Ile
ENST00000392665.6:c.786G>A ENSP00000376433.2:p.Met262Ile
ENST00000392666.5:c.786G>A ENSP00000376434.1:p.Met262Ile
ENST00000440599.6:c.786G>A ENSP00000406320.2:p.Met262Ile
NM_000220.4:c.843G>A NP_000211.1:p.Met281Ile
NM_153764.2:c.786G>A NP_722448.1:p.Met262Ile
NM_153765.2:c.837G>A NP_722449.3:p.Met279Ile
NM_153766.2:c.786G>A NP_722450.1:p.Met262Ile
NM_153767.3:c.786G>A NP_722451.1:p.Met262Ile
NM_000220.6:c.843G>A NP_000211.1:p.Met281Ile
NM_153764.3:c.786G>A NP_722448.1:p.Met262Ile
NM_153765.3:c.837G>A NP_722449.3:p.Met279Ile
NM_153766.3:c.786G>A MANE Select NP_722450.1:p.Met262Ile
NM_153767.4:c.786G>A NP_722451.1:p.Met262Ile