Canonical Allele Identifier: CA6357405

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 2978609
• ClinVar RCV Id: RCV003839255
• dbSNP Id: rs765212326
• ExAC: 11:128709164 A / G
• gnomAD v2: 11-128709164-A-G
• gnomAD v3: 11-128839269-A-G
• gnomAD v4: 11-128839269-A-G
• MyVariant Identifiers: chr11:g.128709164A>G (hg19) ; chr11:g.128839269A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839269A>G , CM000673.2:g.128839269A>G	GRCh38
NC_000011.9:g.128709164A>G , CM000673.1:g.128709164A>G	GRCh37
NC_000011.8:g.128214374A>G	NCBI36
NG_009379.1:g.33105T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.975T>C MANE Select	ENSP00000376434.1:p.Phe325=
ENST00000324036.7:c.975T>C	ENSP00000316233.3:p.Phe325=
ENST00000392664.2:c.1032T>C	ENSP00000376432.2:p.Phe344=
ENST00000392665.6:c.975T>C	ENSP00000376433.2:p.Phe325=
ENST00000392666.5:c.975T>C	ENSP00000376434.1:p.Phe325=
ENST00000440599.6:c.975T>C	ENSP00000406320.2:p.Phe325=
NM_000220.4:c.1032T>C	NP_000211.1:p.Phe344=
NM_153764.2:c.975T>C	NP_722448.1:p.Phe325=
NM_153765.2:c.1026T>C	NP_722449.3:p.Phe342=
NM_153766.2:c.975T>C	NP_722450.1:p.Phe325=
NM_153767.3:c.975T>C	NP_722451.1:p.Phe325=
NM_000220.6:c.1032T>C	NP_000211.1:p.Phe344=
NM_153764.3:c.975T>C	NP_722448.1:p.Phe325=
NM_153765.3:c.1026T>C	NP_722449.3:p.Phe342=
NM_153766.3:c.975T>C MANE Select	NP_722450.1:p.Phe325=
NM_153767.4:c.975T>C	NP_722451.1:p.Phe325=