Canonical Allele Identifier: CA10608070
Gene: KCNJ10 HGNC NCBI

Linked Data

ClinVar Variation Id: 293095
ClinVar RCV Id: RCV000311311 RCV000368280 RCV000407692 RCV001689970
dbSNP Id: rs56656397
gnomAD v2: 1-160009163-GACAC-G
gnomAD v3: 1-160039373-GACAC-G
gnomAD v4: 1-160039373-GACAC-G
MyVariant Identifiers: chr1:g.160009174_160009177del (hg19) chr1:g.160009164_160009167del (hg19) chr1:g.160039384_160039387del (hg38) chr1:g.160039374_160039377del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160039421_160039424del , CM000663.2:g.160039421_160039424del GRCh38
NC_000001.10:g.160009211_160009214del , CM000663.1:g.160009211_160009214del GRCh37
NC_000001.9:g.158275835_158275838del NCBI36
NG_016411.1:g.35795_35798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000509700.2:c.671+2457_671+2460del
ENST00000636689.1:n.95-29_95-26del
ENST00000637644.1:c.487+2669_487+2672del ENSP00000490282.1:n.487+2669_487+2672del
ENST00000638728.1:c.*2016_*2019del ENSP00000492619.1:n.*2016_*2019del
ENST00000638840.1:c.2144_2147del
ENST00000638868.1:c.*2016_*2019del ENSP00000491250.1:n.*2016_*2019del
ENST00000639408.1:c.587+1125_587+1128del ENSP00000491635.1:n.587+1125_587+1128del
ENST00000640017.1:c.1894_1897del ENSP00000491337.1:n.1894_1897del
ENST00000640914.1:c.224+1125_224+1128del
ENST00000644903.1:c.*2016_*2019del MANE Select ENSP00000495557.1:n.*2016_*2019del
ENST00000368089.3:c.*2016_*2019del ENSP00000357068.3:n.*2016_*2019del
NM_002241.4:c.*2016_*2019del NP_002232.2:n.*2016_*2019del
NM_002241.5:c.*2016_*2019del MANE Select NP_002232.2:n.*2016_*2019del
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