Canonical Allele Identifier: CA118811

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 7465
• ClinVar RCV Id: RCV000007891
• dbSNP Id: rs137853069
• MyVariant Identifiers: chr1:g.160011832G>A (hg19) ; chr1:g.160042042G>A (hg38)
• PubMed: PMID:19289823 ; PMID:20807765

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160042042G>A , CM000663.2:g.160042042G>A	GRCh38
NC_000001.10:g.160011832G>A , CM000663.1:g.160011832G>A	GRCh37
NC_000001.9:g.158278456G>A	NCBI36
NG_016411.1:g.33130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.463C>T
ENST00000636689.1:n.95-2694C>T
ENST00000637644.1:c.487+4C>T	ENSP00000490282.1:n.487+4C>T
ENST00000638728.1:c.491C>T	ENSP00000492619.1:p.Thr164Ile
ENST00000638840.1:c.213C>T
ENST00000638868.1:c.491C>T	ENSP00000491250.1:p.Thr164Ile
ENST00000639408.1:c.487+4C>T	ENSP00000491635.1:n.487+4C>T
ENST00000640017.1:c.461C>T	ENSP00000491337.1:p.Thr154Ile
ENST00000644903.1:c.491C>T MANE Select	ENSP00000495557.1:p.Thr164Ile
ENST00000368089.3:c.491C>T	ENSP00000357068.3:p.Thr164Ile
ENST00000509700.1:n.254C>T
NM_002241.4:c.491C>T	NP_002232.2:p.Thr164Ile
NM_002241.5:c.491C>T MANE Select	NP_002232.2:p.Thr164Ile