Canonical Allele Identifier: CA288914

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 129316
• ClinVar RCV Id: RCV000117319 ; RCV000234164 ; RCV000710154 ; RCV001258301 ; RCV002312144
• dbSNP Id: rs115466046
• ExAC: 1:160012270 C / T
• gnomAD v2: 1-160012270-C-T
• gnomAD v3: 1-160042480-C-T
• gnomAD v4: 1-160042480-C-T
• MyVariant Identifiers: chr1:g.160012270C>T (hg19) ; chr1:g.160042480C>T (hg38)
• PubMed: PMID:21458570 ; PMID:23965030 ; PMID:27182706 ; PMID:27677466

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160042480C>T , CM000663.2:g.160042480C>T	GRCh38
NC_000001.10:g.160012270C>T , CM000663.1:g.160012270C>T	GRCh37
NC_000001.9:g.158278894C>T	NCBI36
NG_016411.1:g.32692G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.25G>A
ENST00000636689.1:n.95-3132G>A
ENST00000637644.1:c.53G>A	ENSP00000490282.1:p.Arg18Gln
ENST00000638728.1:c.53G>A	ENSP00000492619.1:p.Arg18Gln
ENST00000638868.1:c.53G>A	ENSP00000491250.1:p.Arg18Gln
ENST00000639408.1:c.53G>A	ENSP00000491635.1:p.Arg18Gln
ENST00000640017.1:c.23G>A	ENSP00000491337.1:p.Arg8Gln
ENST00000644903.1:c.53G>A MANE Select	ENSP00000495557.1:p.Arg18Gln
ENST00000368089.3:c.53G>A	ENSP00000357068.3:p.Arg18Gln
NM_002241.4:c.53G>A	NP_002232.2:p.Arg18Gln
NM_002241.5:c.53G>A MANE Select	NP_002232.2:p.Arg18Gln