Canonical Allele Identifier: CA383246628

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128840017-A-G
• MyVariant Identifiers: chr11:g.128709912A>G (hg19) ; chr11:g.128840017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840017A>G , CM000673.2:g.128840017A>G	GRCh38
NC_000011.9:g.128709912A>G , CM000673.1:g.128709912A>G	GRCh37
NC_000011.8:g.128215122A>G	NCBI36
NG_009379.1:g.32357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.227T>C MANE Select	ENSP00000376434.1:p.Phe76Ser
ENST00000324003.3:c.227T>C	ENSP00000316136.3:p.Phe76Ser
ENST00000324036.7:c.227T>C	ENSP00000316233.3:p.Phe76Ser
ENST00000392664.2:c.284T>C	ENSP00000376432.2:p.Phe95Ser
ENST00000392665.6:c.227T>C	ENSP00000376433.2:p.Phe76Ser
ENST00000392666.5:c.227T>C	ENSP00000376434.1:p.Phe76Ser
ENST00000440599.6:c.227T>C	ENSP00000406320.2:p.Phe76Ser
NM_000220.4:c.284T>C	NP_000211.1:p.Phe95Ser
NM_153764.2:c.227T>C	NP_722448.1:p.Phe76Ser
NM_153765.2:c.278T>C	NP_722449.3:p.Phe93Ser
NM_153766.2:c.227T>C	NP_722450.1:p.Phe76Ser
NM_153767.3:c.227T>C	NP_722451.1:p.Phe76Ser
NM_000220.6:c.284T>C	NP_000211.1:p.Phe95Ser
NM_153764.3:c.227T>C	NP_722448.1:p.Phe76Ser
NM_153765.3:c.278T>C	NP_722449.3:p.Phe93Ser
NM_153766.3:c.227T>C MANE Select	NP_722450.1:p.Phe76Ser
NM_153767.4:c.227T>C	NP_722451.1:p.Phe76Ser