Canonical Allele Identifier: CA6357467

Gene: KCNJ1

Linked Data

• dbSNP Id: rs750854043
• ExAC: 11:128709425 A / G
• gnomAD v2: 11-128709425-A-G
• gnomAD v4: 11-128839530-A-G
• MyVariant Identifiers: chr11:g.128709425A>G (hg19) ; chr11:g.128839530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839530A>G , CM000673.2:g.128839530A>G	GRCh38
NC_000011.9:g.128709425A>G , CM000673.1:g.128709425A>G	GRCh37
NC_000011.8:g.128214635A>G	NCBI36
NG_009379.1:g.32844T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.714T>C MANE Select	ENSP00000376434.1:p.Asn238=
ENST00000324036.7:c.714T>C	ENSP00000316233.3:p.Asn238=
ENST00000392664.2:c.771T>C	ENSP00000376432.2:p.Asn257=
ENST00000392665.6:c.714T>C	ENSP00000376433.2:p.Asn238=
ENST00000392666.5:c.714T>C	ENSP00000376434.1:p.Asn238=
ENST00000440599.6:c.714T>C	ENSP00000406320.2:p.Asn238=
NM_000220.4:c.771T>C	NP_000211.1:p.Asn257=
NM_153764.2:c.714T>C	NP_722448.1:p.Asn238=
NM_153765.2:c.765T>C	NP_722449.3:p.Asn255=
NM_153766.2:c.714T>C	NP_722450.1:p.Asn238=
NM_153767.3:c.714T>C	NP_722451.1:p.Asn238=
NM_000220.6:c.771T>C	NP_000211.1:p.Asn257=
NM_153764.3:c.714T>C	NP_722448.1:p.Asn238=
NM_153765.3:c.765T>C	NP_722449.3:p.Asn255=
NM_153766.3:c.714T>C MANE Select	NP_722450.1:p.Asn238=
NM_153767.4:c.714T>C	NP_722451.1:p.Asn238=