Canonical Allele Identifier: CA10607916

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293108
• ClinVar RCV Id: RCV000297690 ; RCV000355793 ; RCV000405793
• dbSNP Id: rs886045409
• gnomAD v2: 1-160010400-T-C
• gnomAD v3: 1-160040610-T-C
• gnomAD v4: 1-160040610-T-C
• MyVariant Identifiers: chr1:g.160010400T>C (hg19) ; chr1:g.160040610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160040610T>C , CM000663.2:g.160040610T>C	GRCh38
NC_000001.10:g.160010400T>C , CM000663.1:g.160010400T>C	GRCh37
NC_000001.9:g.158277024T>C	NCBI36
NG_016411.1:g.34562A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509700.2:c.671+1224A>G
ENST00000636689.1:n.95-1262A>G
ENST00000637644.1:c.487+1436A>G	ENSP00000490282.1:n.487+1436A>G
ENST00000638728.1:c.*783A>G	ENSP00000492619.1:n.*783A>G
ENST00000638840.1:c.920-9A>G
ENST00000638868.1:c.*783A>G	ENSP00000491250.1:n.*783A>G
ENST00000639408.1:c.488-9A>G	ENSP00000491635.1:n.488-9A>G
ENST00000640017.1:c.670-9A>G	ENSP00000491337.1:n.670-9A>G
ENST00000640914.1:c.125-9A>G
ENST00000644903.1:c.*783A>G MANE Select	ENSP00000495557.1:n.*783A>G
ENST00000368089.3:c.*783A>G	ENSP00000357068.3:n.*783A>G
ENST00000509700.1:n.463-9A>G
NM_002241.4:c.*783A>G	NP_002232.2:n.*783A>G
NM_002241.5:c.*783A>G MANE Select	NP_002232.2:n.*783A>G