Canonical Allele Identifier: CA315269
Gene: KCNJ10 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160041845G>A
GRCh37 chr1:g.160011635G>A
Revel Score:
ENST00000368089 0.513
gnomAD v2:
1:160011635 G / A
gnomAD v3:
1:160041845 G / A
gnomAD v4:
chr1-160041845-G-A
Joint Max Group AF 0.00007218 (AFR)
Genomes Max Group AF 0.00009544 (AFR)
Exomes Max Group AF 0.00002743 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160041845G>A , CM000663.2:g.160041845G>A GRCh38
NC_000001.10:g.160011635G>A , CM000663.1:g.160011635G>A GRCh37
NC_000001.9:g.158278259G>A NCBI36
NG_016411.1:g.33327C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000509700.2:c.660C>T
ENST00000636689.1:n.95-2497C>T
ENST00000637644.1:c.487+201C>T ENSP00000490282.1:n.487+201C>T
ENST00000638728.1:c.688C>T ENSP00000492619.1:p.Arg230Trp
ENST00000638840.1:c.410C>T
ENST00000638868.1:c.688C>T ENSP00000491250.1:p.Arg230Trp
ENST00000639408.1:c.487+201C>T ENSP00000491635.1:n.487+201C>T
ENST00000640017.1:c.658C>T ENSP00000491337.1:p.Arg220Trp
ENST00000640914.1:c.113C>T
ENST00000644903.1:c.688C>T MANE Select ENSP00000495557.1:p.Arg230Trp
ENST00000368089.3:c.688C>T ENSP00000357068.3:p.Arg230Trp
ENST00000509700.1:n.451C>T
NM_002241.4:c.688C>T NP_002232.2:p.Arg230Trp
NM_002241.5:c.688C>T MANE Select NP_002232.2:p.Arg230Trp
Search 100 bp 5'
Search 100 bp 3'