Canonical Allele Identifier: CA10608470

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293112
• ClinVar RCV Id: RCV000340641 ; RCV000379535
• dbSNP Id: rs528816212
• gnomAD v2: 1-160010821-T-A
• gnomAD v3: 1-160041031-T-A
• gnomAD v4: 1-160041031-T-A
• MyVariant Identifiers: chr1:g.160010821T>A (hg19) ; chr1:g.160041031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041031T>A , CM000663.2:g.160041031T>A	GRCh38
NC_000001.10:g.160010821T>A , CM000663.1:g.160010821T>A	GRCh37
NC_000001.9:g.158277445T>A	NCBI36
NG_016411.1:g.34141A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+803A>T
ENST00000636689.1:n.95-1683A>T
ENST00000637644.1:c.487+1015A>T	ENSP00000490282.1:n.487+1015A>T
ENST00000638728.1:c.*362A>T	ENSP00000492619.1:n.*362A>T
ENST00000638840.1:c.919+305A>T
ENST00000638868.1:c.*362A>T	ENSP00000491250.1:n.*362A>T
ENST00000639408.1:c.488-430A>T	ENSP00000491635.1:n.488-430A>T
ENST00000640017.1:c.670-430A>T	ENSP00000491337.1:n.670-430A>T
ENST00000640914.1:c.125-430A>T
ENST00000644903.1:c.*362A>T MANE Select	ENSP00000495557.1:n.*362A>T
ENST00000368089.3:c.*362A>T	ENSP00000357068.3:n.*362A>T
ENST00000509700.1:n.463-430A>T
NM_002241.4:c.*362A>T	NP_002232.2:n.*362A>T
NM_002241.5:c.*362A>T MANE Select	NP_002232.2:n.*362A>T