Canonical Allele Identifier: CA10607911
Gene: KCNJ10 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160040232A>G
GRCh37 chr1:g.160010022A>G
gnomAD v2:
1:160010022 A / G
gnomAD v3:
1:160040232 A / G
gnomAD v4:
chr1-160040232-A-G
Joint Max Group AF 0.00767796 (NFE)
Genomes Max Group AF 0.00769563 (NFE)
Exomes Max Group AF 0.00741207 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160040232A>G , CM000663.2:g.160040232A>G GRCh38
NC_000001.10:g.160010022A>G , CM000663.1:g.160010022A>G GRCh37
NC_000001.9:g.158276646A>G NCBI36
NG_016411.1:g.34940T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509700.2:c.671+1602T>C
ENST00000636689.1:n.95-884T>C
ENST00000637644.1:c.487+1814T>C ENSP00000490282.1:n.487+1814T>C
ENST00000638728.1:c.*1161T>C ENSP00000492619.1:n.*1161T>C
ENST00000638840.1:c.1289T>C
ENST00000638868.1:c.*1161T>C ENSP00000491250.1:n.*1161T>C
ENST00000639408.1:c.587+270T>C ENSP00000491635.1:n.587+270T>C
ENST00000640017.1:c.1039T>C ENSP00000491337.1:n.1039T>C
ENST00000640914.1:c.224+270T>C
ENST00000644903.1:c.*1161T>C MANE Select ENSP00000495557.1:n.*1161T>C
ENST00000368089.3:c.*1161T>C ENSP00000357068.3:n.*1161T>C
NM_002241.4:c.*1161T>C NP_002232.2:n.*1161T>C
NM_002241.5:c.*1161T>C MANE Select NP_002232.2:n.*1161T>C
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