Canonical Allele Identifier: CA673265513

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1175171857
• gnomAD v4: 11-128838907-A-G
• MyVariant Identifiers: chr11:g.128708802A>G (hg19) ; chr11:g.128838907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128838907A>G , CM000673.2:g.128838907A>G	GRCh38
NC_000011.9:g.128708802A>G , CM000673.1:g.128708802A>G	GRCh37
NC_000011.8:g.128214012A>G	NCBI36
NG_009379.1:g.33467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.*218T>C MANE Select	ENSP00000376434.1:n.*218T>C
ENST00000324036.7:c.*218T>C	ENSP00000316233.3:n.*218T>C
ENST00000392664.2:c.*218T>C	ENSP00000376432.2:n.*218T>C
ENST00000392665.6:c.*218T>C	ENSP00000376433.2:n.*218T>C
ENST00000392666.5:c.*218T>C	ENSP00000376434.1:n.*218T>C
ENST00000440599.6:c.*218T>C	ENSP00000406320.2:n.*218T>C
NM_000220.4:c.*218T>C	NP_000211.1:n.*218T>C
NM_153764.2:c.*218T>C	NP_722448.1:n.*218T>C
NM_153765.2:c.*218T>C	NP_722449.3:n.*218T>C
NM_153766.2:c.*218T>C	NP_722450.1:n.*218T>C
NM_153767.3:c.*218T>C	NP_722451.1:n.*218T>C
NM_000220.6:c.*218T>C	NP_000211.1:n.*218T>C
NM_153764.3:c.*218T>C	NP_722448.1:n.*218T>C
NM_153765.3:c.*218T>C	NP_722449.3:n.*218T>C
NM_153766.3:c.*218T>C MANE Select	NP_722450.1:n.*218T>C
NM_153767.4:c.*218T>C	NP_722451.1:n.*218T>C