Canonical Allele Identifier: CA10608069

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293088
• ClinVar RCV Id: RCV000358581 ; RCV000405763
• dbSNP Id: rs116235450
• gnomAD v2: 1-160008789-A-G
• gnomAD v3: 1-160038999-A-G
• gnomAD v4: 1-160038999-A-G
• MyVariant Identifiers: chr1:g.160008789A>G (hg19) ; chr1:g.160038999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160038999A>G , CM000663.2:g.160038999A>G	GRCh38
NC_000001.10:g.160008789A>G , CM000663.1:g.160008789A>G	GRCh37
NC_000001.9:g.158275413A>G	NCBI36
NG_016411.1:g.36173T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+2835T>C
ENST00000636689.1:n.444T>C
ENST00000637644.1:c.487+3047T>C	ENSP00000490282.1:n.487+3047T>C
ENST00000638728.1:c.*2394T>C	ENSP00000492619.1:n.*2394T>C
ENST00000638840.1:c.2522T>C
ENST00000638868.1:c.*2394T>C	ENSP00000491250.1:n.*2394T>C
ENST00000639408.1:c.587+1503T>C	ENSP00000491635.1:n.587+1503T>C
ENST00000640017.1:c.2272T>C	ENSP00000491337.1:n.2272T>C
ENST00000640914.1:c.224+1503T>C
ENST00000644903.1:c.*2394T>C MANE Select	ENSP00000495557.1:n.*2394T>C
ENST00000368089.3:c.*2394T>C	ENSP00000357068.3:n.*2394T>C
NM_002241.4:c.*2394T>C	NP_002232.2:n.*2394T>C
NM_002241.5:c.*2394T>C MANE Select	NP_002232.2:n.*2394T>C