Canonical Allele Identifier: CA10608060

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293085
• ClinVar RCV Id: RCV000331615 ; RCV000385878
• dbSNP Id: rs190897143
• gnomAD v2: 1-160008693-C-T
• gnomAD v3: 1-160038903-C-T
• gnomAD v4: 1-160038903-C-T
• MyVariant Identifiers: chr1:g.160008693C>T (hg19) ; chr1:g.160008693_160008724delinsTCTGTGCCTACCGAAATCTCCCCTTTTTACAA (hg19) ; chr1:g.160038903C>T (hg38) ; chr1:g.160038903_160038934delinsTCTGTGCCTACCGAAATCTCCCCTTTTTACAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160038903C>T , CM000663.2:g.160038903C>T	GRCh38
NC_000001.10:g.160008693C>T , CM000663.1:g.160008693C>T	GRCh37
NC_000001.9:g.158275317C>T	NCBI36
NG_016411.1:g.36269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+2931G>A
ENST00000636689.1:n.540G>A
ENST00000637644.1:c.487+3143G>A	ENSP00000490282.1:n.487+3143G>A
ENST00000638728.1:c.*2490G>A	ENSP00000492619.1:n.*2490G>A
ENST00000638840.1:c.2618G>A
ENST00000638868.1:c.*2490G>A	ENSP00000491250.1:n.*2490G>A
ENST00000639408.1:c.587+1599G>A	ENSP00000491635.1:n.587+1599G>A
ENST00000640017.1:c.2368G>A	ENSP00000491337.1:n.2368G>A
ENST00000640914.1:c.224+1599G>A
ENST00000644903.1:c.*2490G>A MANE Select	ENSP00000495557.1:n.*2490G>A
ENST00000368089.3:c.*2490G>A	ENSP00000357068.3:n.*2490G>A
NM_002241.4:c.*2490G>A	NP_002232.2:n.*2490G>A
NM_002241.5:c.*2490G>A MANE Select	NP_002232.2:n.*2490G>A