Canonical Allele Identifier: CA10638449

Gene: KCNJ1

Linked Data

• ClinVar Variation Id: 303565
• ClinVar RCV Id: RCV000295927
• dbSNP Id: rs191121237
• gnomAD v2: 11-128708879-C-T
• gnomAD v3: 11-128838984-C-T
• gnomAD v4: 11-128838984-C-T
• MyVariant Identifiers: chr11:g.128708879C>T (hg19) ; chr11:g.128838984C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128838984C>T , CM000673.2:g.128838984C>T	GRCh38
NC_000011.9:g.128708879C>T , CM000673.1:g.128708879C>T	GRCh37
NC_000011.8:g.128214089C>T	NCBI36
NG_009379.1:g.33390G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.*141G>A MANE Select	ENSP00000376434.1:n.*141G>A
ENST00000324036.7:c.*141G>A	ENSP00000316233.3:n.*141G>A
ENST00000392664.2:c.*141G>A	ENSP00000376432.2:n.*141G>A
ENST00000392665.6:c.*141G>A	ENSP00000376433.2:n.*141G>A
ENST00000392666.5:c.*141G>A	ENSP00000376434.1:n.*141G>A
ENST00000440599.6:c.*141G>A	ENSP00000406320.2:n.*141G>A
NM_000220.4:c.*141G>A	NP_000211.1:n.*141G>A
NM_153764.2:c.*141G>A	NP_722448.1:n.*141G>A
NM_153765.2:c.*141G>A	NP_722449.3:n.*141G>A
NM_153766.2:c.*141G>A	NP_722450.1:n.*141G>A
NM_153767.3:c.*141G>A	NP_722451.1:n.*141G>A
NM_000220.6:c.*141G>A	NP_000211.1:n.*141G>A
NM_153764.3:c.*141G>A	NP_722448.1:n.*141G>A
NM_153765.3:c.*141G>A	NP_722449.3:n.*141G>A
NM_153766.3:c.*141G>A MANE Select	NP_722450.1:n.*141G>A
NM_153767.4:c.*141G>A	NP_722451.1:n.*141G>A