Canonical Allele Identifier: CA315286

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 205830
• ClinVar RCV Id: RCV000187818 ; RCV000796670
• dbSNP Id: rs750091894
• ExAC: 1:160011325 A / G
• gnomAD v2: 1-160011325-A-G
• gnomAD v3: 1-160041535-A-G
• gnomAD v4: 1-160041535-A-G
• MyVariant Identifiers: chr1:g.160011325A>G (hg19) ; chr1:g.160041535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041535A>G , CM000663.2:g.160041535A>G	GRCh38
NC_000001.10:g.160011325A>G , CM000663.1:g.160011325A>G	GRCh37
NC_000001.9:g.158277949A>G	NCBI36
NG_016411.1:g.33637T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+299T>C
ENST00000636689.1:n.95-2187T>C
ENST00000637644.1:c.487+511T>C	ENSP00000490282.1:n.487+511T>C
ENST00000638728.1:c.998T>C	ENSP00000492619.1:p.Val333Ala
ENST00000638840.1:c.720T>C
ENST00000638868.1:c.998T>C	ENSP00000491250.1:p.Val333Ala
ENST00000639408.1:c.487+511T>C	ENSP00000491635.1:n.487+511T>C
ENST00000640017.1:c.669+299T>C	ENSP00000491337.1:n.669+299T>C
ENST00000640914.1:c.124+299T>C
ENST00000644903.1:c.998T>C MANE Select	ENSP00000495557.1:p.Val333Ala
ENST00000368089.3:c.998T>C	ENSP00000357068.3:p.Val333Ala
ENST00000509700.1:n.462+299T>C
NM_002241.4:c.998T>C	NP_002232.2:p.Val333Ala
NM_002241.5:c.998T>C MANE Select	NP_002232.2:p.Val333Ala