Canonical Allele Identifier: CA6357490

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 1055539
• ClinVar RCV Id: RCV001364225
• dbSNP Id: rs104894246
• ExAC: 11:128709555 G / C
• gnomAD v3: 11-128839660-G-C
• gnomAD v4: 11-128839660-G-C
• MyVariant Identifiers: chr11:g.128709555G>C (hg19) ; chr11:g.128839660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839660G>C , CM000673.2:g.128839660G>C	GRCh38
NC_000011.9:g.128709555G>C , CM000673.1:g.128709555G>C	GRCh37
NC_000011.8:g.128214765G>C	NCBI36
NG_009379.1:g.32714C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.584C>G MANE Select	ENSP00000376434.1:p.Ala195Gly
ENST00000324036.7:c.584C>G	ENSP00000316233.3:p.Ala195Gly
ENST00000392664.2:c.641C>G	ENSP00000376432.2:p.Ala214Gly
ENST00000392665.6:c.584C>G	ENSP00000376433.2:p.Ala195Gly
ENST00000392666.5:c.584C>G	ENSP00000376434.1:p.Ala195Gly
ENST00000440599.6:c.584C>G	ENSP00000406320.2:p.Ala195Gly
NM_000220.4:c.641C>G	NP_000211.1:p.Ala214Gly
NM_153764.2:c.584C>G	NP_722448.1:p.Ala195Gly
NM_153765.2:c.635C>G	NP_722449.3:p.Ala212Gly
NM_153766.2:c.584C>G	NP_722450.1:p.Ala195Gly
NM_153767.3:c.584C>G	NP_722451.1:p.Ala195Gly
NM_000220.6:c.641C>G	NP_000211.1:p.Ala214Gly
NM_153764.3:c.584C>G	NP_722448.1:p.Ala195Gly
NM_153765.3:c.635C>G	NP_722449.3:p.Ala212Gly
NM_153766.3:c.584C>G MANE Select	NP_722450.1:p.Ala195Gly
NM_153767.4:c.584C>G	NP_722451.1:p.Ala195Gly