Canonical Allele Identifier: CA10608393

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293096
• ClinVar RCV Id: RCV000271458 ; RCV000310224 ; RCV000362624 ; RCV001618501
• dbSNP Id: rs56656397
• gnomAD v2: 1-160009163-GACACACAC-G
• gnomAD v3: 1-160039373-GACACACAC-G
• gnomAD v4: 1-160039373-GACACACAC-G
• MyVariant Identifiers: chr1:g.160009170_160009177del (hg19) ; chr1:g.160009164_160009171del (hg19) ; chr1:g.160039380_160039387del (hg38) ; chr1:g.160039374_160039381del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160039417_160039424del , CM000663.2:g.160039417_160039424del	GRCh38
NC_000001.10:g.160009207_160009214del , CM000663.1:g.160009207_160009214del	GRCh37
NC_000001.9:g.158275831_158275838del	NCBI36
NG_016411.1:g.35791_35798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+2453_671+2460del
ENST00000636689.1:n.95-33_95-26del
ENST00000637644.1:c.487+2665_487+2672del	ENSP00000490282.1:n.487+2665_487+2672del
ENST00000638728.1:c.*2012_*2019del	ENSP00000492619.1:n.*2012_*2019del
ENST00000638840.1:c.2140_2147del
ENST00000638868.1:c.*2012_*2019del	ENSP00000491250.1:n.*2012_*2019del
ENST00000639408.1:c.587+1121_587+1128del	ENSP00000491635.1:n.587+1121_587+1128del
ENST00000640017.1:c.1890_1897del	ENSP00000491337.1:n.1890_1897del
ENST00000640914.1:c.224+1121_224+1128del
ENST00000644903.1:c.*2012_*2019del MANE Select	ENSP00000495557.1:n.*2012_*2019del
ENST00000368089.3:c.*2012_*2019del	ENSP00000357068.3:n.*2012_*2019del
NM_002241.4:c.*2012_*2019del	NP_002232.2:n.*2012_*2019del
NM_002241.5:c.*2012_*2019del MANE Select	NP_002232.2:n.*2012_*2019del