Canonical Allele Identifier: CA477703297
Gene: KCNJ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.128709575A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839680A>T , CM000673.2:g.128839680A>T GRCh38
NC_000011.9:g.128709575A>T , CM000673.1:g.128709575A>T GRCh37
NC_000011.8:g.128214785A>T NCBI36
NG_009379.1:g.32694T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.564T>A MANE Select ENSP00000376434.1:p.Leu188=
ENST00000324036.7:c.564T>A ENSP00000316233.3:p.Leu188=
ENST00000392664.2:c.621T>A ENSP00000376432.2:p.Leu207=
ENST00000392665.6:c.564T>A ENSP00000376433.2:p.Leu188=
ENST00000392666.5:c.564T>A ENSP00000376434.1:p.Leu188=
ENST00000440599.6:c.564T>A ENSP00000406320.2:p.Leu188=
NM_000220.4:c.621T>A NP_000211.1:p.Leu207=
NM_153764.2:c.564T>A NP_722448.1:p.Leu188=
NM_153765.2:c.615T>A NP_722449.3:p.Leu205=
NM_153766.2:c.564T>A NP_722450.1:p.Leu188=
NM_153767.3:c.564T>A NP_722451.1:p.Leu188=
NM_000220.6:c.621T>A NP_000211.1:p.Leu207=
NM_153764.3:c.564T>A NP_722448.1:p.Leu188=
NM_153765.3:c.615T>A NP_722449.3:p.Leu205=
NM_153766.3:c.564T>A MANE Select NP_722450.1:p.Leu188=
NM_153767.4:c.564T>A NP_722451.1:p.Leu188=