Canonical Allele Identifier: CA1193277

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 378001
• ClinVar RCV Id: RCV000426056 ; RCV000727079 ; RCV001087546 ; RCV001097717 ; RCV002314145 ; RCV004544736
• dbSNP Id: rs144495959
• ExAC: 1:160012104 C / T
• gnomAD v2: 1-160012104-C-T
• gnomAD v3: 1-160042314-C-T
• gnomAD v4: 1-160042314-C-T
• COSMIC: COSM898136
• MyVariant Identifiers: chr1:g.160012104C>T (hg19) ; chr1:g.160042314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160042314C>T , CM000663.2:g.160042314C>T	GRCh38
NC_000001.10:g.160012104C>T , CM000663.1:g.160012104C>T	GRCh37
NC_000001.9:g.158278728C>T	NCBI36
NG_016411.1:g.32858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.191G>A
ENST00000636689.1:n.95-2966G>A
ENST00000637644.1:c.219G>A	ENSP00000490282.1:p.Ala73=
ENST00000638728.1:c.219G>A	ENSP00000492619.1:p.Ala73=
ENST00000638868.1:c.219G>A	ENSP00000491250.1:p.Ala73=
ENST00000639408.1:c.219G>A	ENSP00000491635.1:p.Ala73=
ENST00000640017.1:c.189G>A	ENSP00000491337.1:p.Ala63=
ENST00000644903.1:c.219G>A MANE Select	ENSP00000495557.1:p.Ala73=
ENST00000368089.3:c.219G>A	ENSP00000357068.3:p.Ala73=
NM_002241.4:c.219G>A	NP_002232.2:p.Ala73=
NM_002241.5:c.219G>A MANE Select	NP_002232.2:p.Ala73=