Canonical Allele Identifier: CA10608390

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293091
• ClinVar RCV Id: RCV000288441 ; RCV000385122 ; RCV001651331
• dbSNP Id: rs2486254
• gnomAD v2: 1-160009143-G-C
• gnomAD v3: 1-160039353-G-C
• gnomAD v4: 1-160039353-G-C
• MyVariant Identifiers: chr1:g.160009143G>C (hg19) ; chr1:g.160039353G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160039353G>C , CM000663.2:g.160039353G>C	GRCh38
NC_000001.10:g.160009143G>C , CM000663.1:g.160009143G>C	GRCh37
NC_000001.9:g.158275767G>C	NCBI36
NG_016411.1:g.35819C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+2481C>G
ENST00000636689.1:n.95-5C>G
ENST00000637644.1:c.487+2693C>G	ENSP00000490282.1:n.487+2693C>G
ENST00000638728.1:c.*2040C>G	ENSP00000492619.1:n.*2040C>G
ENST00000638840.1:c.2168C>G
ENST00000638868.1:c.*2040C>G	ENSP00000491250.1:n.*2040C>G
ENST00000639408.1:c.587+1149C>G	ENSP00000491635.1:n.587+1149C>G
ENST00000640017.1:c.1918C>G	ENSP00000491337.1:n.1918C>G
ENST00000640914.1:c.224+1149C>G
ENST00000644903.1:c.*2040C>G MANE Select	ENSP00000495557.1:n.*2040C>G
ENST00000368089.3:c.*2040C>G	ENSP00000357068.3:n.*2040C>G
NM_002241.4:c.*2040C>G	NP_002232.2:n.*2040C>G
NM_002241.5:c.*2040C>G MANE Select	NP_002232.2:n.*2040C>G