Canonical Allele Identifier: CA118814

Gene: KCNJ10

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

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