Canonical Allele Identifier: CA421596963

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 2827804
• ClinVar RCV Id: RCV003618629
• MyVariant Identifiers: chr1:g.160011282T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041492T>C , CM000663.2:g.160041492T>C	GRCh38
NC_000001.10:g.160011282T>C , CM000663.1:g.160011282T>C	GRCh37
NC_000001.9:g.158277906T>C	NCBI36
NG_016411.1:g.33680A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+342A>G
ENST00000636689.1:n.95-2144A>G
ENST00000637644.1:c.487+554A>G	ENSP00000490282.1:n.487+554A>G
ENST00000638728.1:c.1041A>G	ENSP00000492619.1:p.Val347=
ENST00000638840.1:c.763A>G
ENST00000638868.1:c.1041A>G	ENSP00000491250.1:p.Val347=
ENST00000639408.1:c.487+554A>G	ENSP00000491635.1:n.487+554A>G
ENST00000640017.1:c.669+342A>G	ENSP00000491337.1:n.669+342A>G
ENST00000640914.1:c.124+342A>G
ENST00000644903.1:c.1041A>G MANE Select	ENSP00000495557.1:p.Val347=
ENST00000368089.3:c.1041A>G	ENSP00000357068.3:p.Val347=
ENST00000509700.1:n.462+342A>G
NM_002241.4:c.1041A>G	NP_002232.2:p.Val347=
NM_002241.5:c.1041A>G MANE Select	NP_002232.2:p.Val347=