Canonical Allele Identifier: CA6357367

Gene: KCNJ1

Linked Data

• dbSNP Id: rs752506242
• ExAC: 11:128708979 A / G
• gnomAD v2: 11-128708979-A-G
• gnomAD v4: 11-128839084-A-G
• MyVariant Identifiers: chr11:g.128708979A>G (hg19) ; chr11:g.128839084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839084A>G , CM000673.2:g.128839084A>G	GRCh38
NC_000011.9:g.128708979A>G , CM000673.1:g.128708979A>G	GRCh37
NC_000011.8:g.128214189A>G	NCBI36
NG_009379.1:g.33290T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.*41T>C MANE Select	ENSP00000376434.1:n.*41T>C
ENST00000324036.7:c.*41T>C	ENSP00000316233.3:n.*41T>C
ENST00000392664.2:c.*41T>C	ENSP00000376432.2:n.*41T>C
ENST00000392665.6:c.*41T>C	ENSP00000376433.2:n.*41T>C
ENST00000392666.5:c.*41T>C	ENSP00000376434.1:n.*41T>C
ENST00000440599.6:c.*41T>C	ENSP00000406320.2:n.*41T>C
NM_000220.4:c.*41T>C	NP_000211.1:n.*41T>C
NM_153764.2:c.*41T>C	NP_722448.1:n.*41T>C
NM_153765.2:c.*41T>C	NP_722449.3:n.*41T>C
NM_153766.2:c.*41T>C	NP_722450.1:n.*41T>C
NM_153767.3:c.*41T>C	NP_722451.1:n.*41T>C
NM_000220.6:c.*41T>C	NP_000211.1:n.*41T>C
NM_153764.3:c.*41T>C	NP_722448.1:n.*41T>C
NM_153765.3:c.*41T>C	NP_722449.3:n.*41T>C
NM_153766.3:c.*41T>C MANE Select	NP_722450.1:n.*41T>C
NM_153767.4:c.*41T>C	NP_722451.1:n.*41T>C