Canonical Allele Identifier: CA477703156
Gene: KCNJ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.128709455G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839560G>A , CM000673.2:g.128839560G>A GRCh38
NC_000011.9:g.128709455G>A , CM000673.1:g.128709455G>A GRCh37
NC_000011.8:g.128214665G>A NCBI36
NG_009379.1:g.32814C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.684C>T MANE Select ENSP00000376434.1:p.Ile228=
ENST00000324036.7:c.684C>T ENSP00000316233.3:p.Ile228=
ENST00000392664.2:c.741C>T ENSP00000376432.2:p.Ile247=
ENST00000392665.6:c.684C>T ENSP00000376433.2:p.Ile228=
ENST00000392666.5:c.684C>T ENSP00000376434.1:p.Ile228=
ENST00000440599.6:c.684C>T ENSP00000406320.2:p.Ile228=
NM_000220.4:c.741C>T NP_000211.1:p.Ile247=
NM_153764.2:c.684C>T NP_722448.1:p.Ile228=
NM_153765.2:c.735C>T NP_722449.3:p.Ile245=
NM_153766.2:c.684C>T NP_722450.1:p.Ile228=
NM_153767.3:c.684C>T NP_722451.1:p.Ile228=
NM_000220.6:c.741C>T NP_000211.1:p.Ile247=
NM_153764.3:c.684C>T NP_722448.1:p.Ile228=
NM_153765.3:c.735C>T NP_722449.3:p.Ile245=
NM_153766.3:c.684C>T MANE Select NP_722450.1:p.Ile228=
NM_153767.4:c.684C>T NP_722451.1:p.Ile228=