Canonical Allele Identifier: CA118814
Gene: KCNJ10 HGNC NCBI

Linked Data

ClinVar Variation Id: 7468
ClinVar RCV Id: RCV000007894
dbSNP Id: rs137853072
MyVariant Identifiers: chr1:g.160012094C>G (hg19) chr1:g.160042304C>G (hg38)
PubMed: PMID:19420365 PMID:20651251 PMID:20807765
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160042304C>G , CM000663.2:g.160042304C>G GRCh38
NC_000001.10:g.160012094C>G , CM000663.1:g.160012094C>G GRCh37
NC_000001.9:g.158278718C>G NCBI36
NG_016411.1:g.32868G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000509700.2:c.201G>C
ENST00000636689.1:n.95-2956G>C
ENST00000637644.1:c.229G>C ENSP00000490282.1:p.Gly77Arg
ENST00000638728.1:c.229G>C ENSP00000492619.1:p.Gly77Arg
ENST00000638868.1:c.229G>C ENSP00000491250.1:p.Gly77Arg
ENST00000639408.1:c.229G>C ENSP00000491635.1:p.Gly77Arg
ENST00000640017.1:c.199G>C ENSP00000491337.1:p.Gly67Arg
ENST00000644903.1:c.229G>C MANE Select ENSP00000495557.1:p.Gly77Arg
ENST00000368089.3:c.229G>C ENSP00000357068.3:p.Gly77Arg
NM_002241.4:c.229G>C NP_002232.2:p.Gly77Arg
NM_002241.5:c.229G>C MANE Select NP_002232.2:p.Gly77Arg
Search 100 bp 5'
Search 100 bp 3'