Canonical Allele Identifier: CA10608465

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293098
• ClinVar RCV Id: RCV000334687 ; RCV000372935
• dbSNP Id: rs886045405
• gnomAD v2: 1-160009328-A-G
• gnomAD v3: 1-160039538-A-G
• gnomAD v4: 1-160039538-A-G
• MyVariant Identifiers: chr1:g.160009328A>G (hg19) ; chr1:g.160039538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160039538A>G , CM000663.2:g.160039538A>G	GRCh38
NC_000001.10:g.160009328A>G , CM000663.1:g.160009328A>G	GRCh37
NC_000001.9:g.158275952A>G	NCBI36
NG_016411.1:g.35634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+2296T>C
ENST00000636689.1:n.95-190T>C
ENST00000637644.1:c.487+2508T>C	ENSP00000490282.1:n.487+2508T>C
ENST00000638728.1:c.*1855T>C	ENSP00000492619.1:n.*1855T>C
ENST00000638840.1:c.1983T>C
ENST00000638868.1:c.*1855T>C	ENSP00000491250.1:n.*1855T>C
ENST00000639408.1:c.587+964T>C	ENSP00000491635.1:n.587+964T>C
ENST00000640017.1:c.1733T>C	ENSP00000491337.1:n.1733T>C
ENST00000640914.1:c.224+964T>C
ENST00000644903.1:c.*1855T>C MANE Select	ENSP00000495557.1:n.*1855T>C
ENST00000368089.3:c.*1855T>C	ENSP00000357068.3:n.*1855T>C
NM_002241.4:c.*1855T>C	NP_002232.2:n.*1855T>C
NM_002241.5:c.*1855T>C MANE Select	NP_002232.2:n.*1855T>C