Canonical Allele Identifier: CA230629000

Gene: KCNJ1

Linked Data

• dbSNP Id: rs992128646
• gnomAD v3: 11-128840020-A-G
• gnomAD v4: 11-128840020-A-G
• MyVariant Identifiers: chr11:g.128709915A>G (hg19) ; chr11:g.128840020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128840020A>G , CM000673.2:g.128840020A>G	GRCh38
NC_000011.9:g.128709915A>G , CM000673.1:g.128709915A>G	GRCh37
NC_000011.8:g.128215125A>G	NCBI36
NG_009379.1:g.32354T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.224T>C MANE Select	ENSP00000376434.1:p.Phe75Ser
ENST00000324003.3:c.224T>C	ENSP00000316136.3:p.Phe75Ser
ENST00000324036.7:c.224T>C	ENSP00000316233.3:p.Phe75Ser
ENST00000392664.2:c.281T>C	ENSP00000376432.2:p.Phe94Ser
ENST00000392665.6:c.224T>C	ENSP00000376433.2:p.Phe75Ser
ENST00000392666.5:c.224T>C	ENSP00000376434.1:p.Phe75Ser
ENST00000440599.6:c.224T>C	ENSP00000406320.2:p.Phe75Ser
NM_000220.4:c.281T>C	NP_000211.1:p.Phe94Ser
NM_153764.2:c.224T>C	NP_722448.1:p.Phe75Ser
NM_153765.2:c.275T>C	NP_722449.3:p.Phe92Ser
NM_153766.2:c.224T>C	NP_722450.1:p.Phe75Ser
NM_153767.3:c.224T>C	NP_722451.1:p.Phe75Ser
NM_000220.6:c.281T>C	NP_000211.1:p.Phe94Ser
NM_153764.3:c.224T>C	NP_722448.1:p.Phe75Ser
NM_153765.3:c.275T>C	NP_722449.3:p.Phe92Ser
NM_153766.3:c.224T>C MANE Select	NP_722450.1:p.Phe75Ser
NM_153767.4:c.224T>C	NP_722451.1:p.Phe75Ser