Canonical Allele Identifier: CA118810

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 7464
• ClinVar RCV Id: RCV000007890
• dbSNP Id: rs137853068
• MyVariant Identifiers: chr1:g.160011905A>G (hg19) ; chr1:g.160042115A>G (hg38)
• PubMed: PMID:19289823 ; PMID:20807765

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160042115A>G , CM000663.2:g.160042115A>G	GRCh38
NC_000001.10:g.160011905A>G , CM000663.1:g.160011905A>G	GRCh37
NC_000001.9:g.158278529A>G	NCBI36
NG_016411.1:g.33057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.390T>C
ENST00000636689.1:n.95-2767T>C
ENST00000637644.1:c.418T>C	ENSP00000490282.1:p.Cys140Arg
ENST00000638728.1:c.418T>C	ENSP00000492619.1:p.Cys140Arg
ENST00000638840.1:c.140T>C
ENST00000638868.1:c.418T>C	ENSP00000491250.1:p.Cys140Arg
ENST00000639408.1:c.418T>C	ENSP00000491635.1:p.Cys140Arg
ENST00000640017.1:c.388T>C	ENSP00000491337.1:p.Cys130Arg
ENST00000644903.1:c.418T>C MANE Select	ENSP00000495557.1:p.Cys140Arg
ENST00000368089.3:c.418T>C	ENSP00000357068.3:p.Cys140Arg
ENST00000509700.1:n.181T>C
NM_002241.4:c.418T>C	NP_002232.2:p.Cys140Arg
NM_002241.5:c.418T>C MANE Select	NP_002232.2:p.Cys140Arg