Canonical Allele Identifier: CA230627312

Gene: KCNJ1

Linked Data

• dbSNP Id: rs928728722
• gnomAD v3: 11-128838987-G-A
• gnomAD v4: 11-128838987-G-A
• MyVariant Identifiers: chr11:g.128708882G>A (hg19) ; chr11:g.128838987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128838987G>A , CM000673.2:g.128838987G>A	GRCh38
NC_000011.9:g.128708882G>A , CM000673.1:g.128708882G>A	GRCh37
NC_000011.8:g.128214092G>A	NCBI36
NG_009379.1:g.33387C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392666.6:c.*138C>T MANE Select	ENSP00000376434.1:n.*138C>T
ENST00000324036.7:c.*138C>T	ENSP00000316233.3:n.*138C>T
ENST00000392664.2:c.*138C>T	ENSP00000376432.2:n.*138C>T
ENST00000392665.6:c.*138C>T	ENSP00000376433.2:n.*138C>T
ENST00000392666.5:c.*138C>T	ENSP00000376434.1:n.*138C>T
ENST00000440599.6:c.*138C>T	ENSP00000406320.2:n.*138C>T
NM_000220.4:c.*138C>T	NP_000211.1:n.*138C>T
NM_153764.2:c.*138C>T	NP_722448.1:n.*138C>T
NM_153765.2:c.*138C>T	NP_722449.3:n.*138C>T
NM_153766.2:c.*138C>T	NP_722450.1:n.*138C>T
NM_153767.3:c.*138C>T	NP_722451.1:n.*138C>T
NM_000220.6:c.*138C>T	NP_000211.1:n.*138C>T
NM_153764.3:c.*138C>T	NP_722448.1:n.*138C>T
NM_153765.3:c.*138C>T	NP_722449.3:n.*138C>T
NM_153766.3:c.*138C>T MANE Select	NP_722450.1:n.*138C>T
NM_153767.4:c.*138C>T	NP_722451.1:n.*138C>T