Canonical Allele Identifier: CA315278
Gene: KCNJ10 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160042354A>G
GRCh37 chr1:g.160012144A>G
Revel Score:
ENST00000368089 0.893
gnomAD v2:
1:160012144 A / G
gnomAD v3:
1:160042354 A / G
gnomAD v4:
chr1-160042354-A-G
Joint Max Group AF 0.00001646 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001628 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160042354A>G , CM000663.2:g.160042354A>G GRCh38
NC_000001.10:g.160012144A>G , CM000663.1:g.160012144A>G GRCh37
NC_000001.9:g.158278768A>G NCBI36
NG_016411.1:g.32818T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000509700.2:c.151T>C
ENST00000636689.1:n.95-3006T>C
ENST00000637644.1:c.179T>C ENSP00000490282.1:p.Ile60Thr
ENST00000638728.1:c.179T>C ENSP00000492619.1:p.Ile60Thr
ENST00000638868.1:c.179T>C ENSP00000491250.1:p.Ile60Thr
ENST00000639408.1:c.179T>C ENSP00000491635.1:p.Ile60Thr
ENST00000640017.1:c.149T>C ENSP00000491337.1:p.Ile50Thr
ENST00000644903.1:c.179T>C MANE Select ENSP00000495557.1:p.Ile60Thr
ENST00000368089.3:c.179T>C ENSP00000357068.3:p.Ile60Thr
NM_002241.4:c.179T>C NP_002232.2:p.Ile60Thr
NM_002241.5:c.179T>C MANE Select NP_002232.2:p.Ile60Thr
Search 100 bp 5'
Search 100 bp 3'