Canonical Allele Identifier: CA1193302

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 1494859
• ClinVar RCV Id: RCV002015116
• dbSNP Id: rs746292052
• ExAC: 1:160012260 C / A
• gnomAD v2: 1-160012260-C-A
• MyVariant Identifiers: chr1:g.160012260C>A (hg19) ; chr1:g.160042470C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160042470C>A , CM000663.2:g.160042470C>A	GRCh38
NC_000001.10:g.160012260C>A , CM000663.1:g.160012260C>A	GRCh37
NC_000001.9:g.158278884C>A	NCBI36
NG_016411.1:g.32702G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.35G>T
ENST00000636689.1:n.95-3122G>T
ENST00000637644.1:c.63G>T	ENSP00000490282.1:p.Met21Ile
ENST00000638728.1:c.63G>T	ENSP00000492619.1:p.Met21Ile
ENST00000638868.1:c.63G>T	ENSP00000491250.1:p.Met21Ile
ENST00000639408.1:c.63G>T	ENSP00000491635.1:p.Met21Ile
ENST00000640017.1:c.33G>T	ENSP00000491337.1:p.Met11Ile
ENST00000644903.1:c.63G>T MANE Select	ENSP00000495557.1:p.Met21Ile
ENST00000368089.3:c.63G>T	ENSP00000357068.3:p.Met21Ile
NM_002241.4:c.63G>T	NP_002232.2:p.Met21Ile
NM_002241.5:c.63G>T MANE Select	NP_002232.2:p.Met21Ile