Canonical Allele Identifier: CA10608051

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 293068
• ClinVar RCV Id: RCV000333935 ; RCV000354857
• dbSNP Id: rs138599071
• gnomAD v2: 1-160007330-C-G
• gnomAD v3: 1-160037540-C-G
• gnomAD v4: 1-160037540-C-G
• MyVariant Identifiers: chr1:g.160007330C>G (hg19) ; chr1:g.160037540C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160037540C>G , CM000663.2:g.160037540C>G	GRCh38
NC_000001.10:g.160007330C>G , CM000663.1:g.160007330C>G	GRCh37
NC_000001.9:g.158273954C>G	NCBI36
NG_016411.1:g.37632G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509700.2:c.671+4294G>C
ENST00000637644.1:c.487+4506G>C	ENSP00000490282.1:n.487+4506G>C
ENST00000639408.1:c.587+2962G>C	ENSP00000491635.1:n.587+2962G>C
ENST00000640914.1:c.224+2962G>C
ENST00000644903.1:c.*3853G>C MANE Select	ENSP00000495557.1:n.*3853G>C
ENST00000368089.3:c.*3853G>C	ENSP00000357068.3:n.*3853G>C
NM_002241.4:c.*3853G>C	NP_002232.2:n.*3853G>C
NM_002241.5:c.*3853G>C MANE Select	NP_002232.2:n.*3853G>C