Canonical Allele Identifier: CA383244423
Gene: KCNJ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839569C>A , CM000673.2:g.128839569C>A GRCh38
NC_000011.9:g.128709464C>A , CM000673.1:g.128709464C>A GRCh37
NC_000011.8:g.128214674C>A NCBI36
NG_009379.1:g.32805G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.675G>T MANE Select ENSP00000376434.1:p.Leu225Phe
ENST00000324036.7:c.675G>T ENSP00000316233.3:p.Leu225Phe
ENST00000392664.2:c.732G>T ENSP00000376432.2:p.Leu244Phe
ENST00000392665.6:c.675G>T ENSP00000376433.2:p.Leu225Phe
ENST00000392666.5:c.675G>T ENSP00000376434.1:p.Leu225Phe
ENST00000440599.6:c.675G>T ENSP00000406320.2:p.Leu225Phe
NM_000220.4:c.732G>T NP_000211.1:p.Leu244Phe
NM_153764.2:c.675G>T NP_722448.1:p.Leu225Phe
NM_153765.2:c.726G>T NP_722449.3:p.Leu242Phe
NM_153766.2:c.675G>T NP_722450.1:p.Leu225Phe
NM_153767.3:c.675G>T NP_722451.1:p.Leu225Phe
NM_000220.6:c.732G>T NP_000211.1:p.Leu244Phe
NM_153764.3:c.675G>T NP_722448.1:p.Leu225Phe
NM_153765.3:c.726G>T NP_722449.3:p.Leu242Phe
NM_153766.3:c.675G>T MANE Select NP_722450.1:p.Leu225Phe
NM_153767.4:c.675G>T NP_722451.1:p.Leu225Phe