Canonical Allele Identifier: CA130855
Gene: KCNJ10 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160042009C>T
GRCh37 chr1:g.160011799C>T
Revel Score:
ENST00000368089 0.939
gnomAD v2:
1:160011799 C / T
gnomAD v4:
chr1-160042009-C-T
Joint Max Group AF 0.00000298 (NFE)
Exomes Max Group AF 0.00000316 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160042009C>T , CM000663.2:g.160042009C>T GRCh38
NC_000001.10:g.160011799C>T , CM000663.1:g.160011799C>T GRCh37
NC_000001.9:g.158278423C>T NCBI36
NG_016411.1:g.33163G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000509700.2:c.496G>A
ENST00000636689.1:n.95-2661G>A
ENST00000637644.1:c.487+37G>A ENSP00000490282.1:n.487+37G>A
ENST00000638728.1:c.524G>A ENSP00000492619.1:p.Arg175Gln
ENST00000638840.1:c.246G>A
ENST00000638868.1:c.524G>A ENSP00000491250.1:p.Arg175Gln
ENST00000639408.1:c.487+37G>A ENSP00000491635.1:n.487+37G>A
ENST00000640017.1:c.494G>A ENSP00000491337.1:p.Arg165Gln
ENST00000644903.1:c.524G>A MANE Select ENSP00000495557.1:p.Arg175Gln
ENST00000368089.3:c.524G>A ENSP00000357068.3:p.Arg175Gln
ENST00000509700.1:n.287G>A
NM_002241.4:c.524G>A NP_002232.2:p.Arg175Gln
NM_002241.5:c.524G>A MANE Select NP_002232.2:p.Arg175Gln
Search 100 bp 5'
Search 100 bp 3'