Canonical Allele Identifier: CA241460

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 195165
• ClinVar RCV Id: RCV000348162 ; RCV000724333 ; RCV000768246 ; RCV001084650 ; RCV002345601 ; RCV004537388
• dbSNP Id: rs145947380
• ExAC: 1:160011793 T / C
• gnomAD v2: 1-160011793-T-C
• gnomAD v3: 1-160042003-T-C
• gnomAD v4: 1-160042003-T-C
• MyVariant Identifiers: chr1:g.160011793T>C (hg19) ; chr1:g.160042003T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160042003T>C , CM000663.2:g.160042003T>C	GRCh38
NC_000001.10:g.160011793T>C , CM000663.1:g.160011793T>C	GRCh37
NC_000001.9:g.158278417T>C	NCBI36
NG_016411.1:g.33169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.502A>G
ENST00000636689.1:n.95-2655A>G
ENST00000637644.1:c.487+43A>G	ENSP00000490282.1:n.487+43A>G
ENST00000638728.1:c.530A>G	ENSP00000492619.1:p.Glu177Gly
ENST00000638840.1:c.252A>G
ENST00000638868.1:c.530A>G	ENSP00000491250.1:p.Glu177Gly
ENST00000639408.1:c.487+43A>G	ENSP00000491635.1:n.487+43A>G
ENST00000640017.1:c.500A>G	ENSP00000491337.1:p.Glu167Gly
ENST00000644903.1:c.530A>G MANE Select	ENSP00000495557.1:p.Glu177Gly
ENST00000368089.3:c.530A>G	ENSP00000357068.3:p.Glu177Gly
ENST00000509700.1:n.293A>G
NM_002241.4:c.530A>G	NP_002232.2:p.Glu177Gly
NM_002241.5:c.530A>G MANE Select	NP_002232.2:p.Glu177Gly