Canonical Allele Identifier: CA230599888

Gene: KCNJ1

Linked Data

• dbSNP Id: rs1054687461
• gnomAD v2: 11-128735302-A-G
• gnomAD v3: 11-128865407-A-G
• gnomAD v4: 11-128865407-A-G
• MyVariant Identifiers: chr11:g.128735302A>G (hg19) ; chr11:g.128865407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128865407A>G , CM000673.2:g.128865407A>G	GRCh38
NC_000011.9:g.128735302A>G , CM000673.1:g.128735302A>G	GRCh37
NC_000011.8:g.128240512A>G	NCBI36
NG_009379.1:g.6967T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.-192+1766T>C MANE Select	ENSP00000376434.1:n.-192+1766T>C
ENST00000324003.3:c.-192+1766T>C	ENSP00000316136.3:n.-192+1766T>C
ENST00000324036.7:c.-192+1116T>C	ENSP00000316233.3:n.-192+1116T>C
ENST00000392665.6:c.-22+1766T>C	ENSP00000376433.2:n.-22+1766T>C
ENST00000392666.5:c.-192+1766T>C	ENSP00000376434.1:n.-192+1766T>C
ENST00000440599.6:c.-22+1116T>C	ENSP00000406320.2:n.-22+1116T>C
ENST00000531562.1:n.124+1766T>C
NM_153764.2:c.-22+1766T>C	NP_722448.1:n.-22+1766T>C
NM_153765.2:c.30+1116T>C	NP_722449.3:n.30+1116T>C
NM_153766.2:c.-192+1766T>C	NP_722450.1:n.-192+1766T>C
NM_153767.3:c.-192+1116T>C	NP_722451.1:n.-192+1116T>C
XR_001748442.1:n.3533-1343A>G
NM_153764.3:c.-22+1766T>C	NP_722448.1:n.-22+1766T>C
NM_153765.3:c.30+1116T>C	NP_722449.3:n.30+1116T>C
NM_153766.3:c.-192+1766T>C MANE Select	NP_722450.1:n.-192+1766T>C
NM_153767.4:c.-192+1116T>C	NP_722451.1:n.-192+1116T>C