Canonical Allele Identifier: CA31469527

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 876466
• ClinVar RCV Id: RCV001101277 ; RCV001101278 ; RCV001683734
• dbSNP Id: rs79238495
• gnomAD v2: 1-160010770-C-T
• gnomAD v3: 1-160040980-C-T
• gnomAD v4: 1-160040980-C-T
• MyVariant Identifiers: chr1:g.160010770C>T (hg19) ; chr1:g.160040980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160040980C>T , CM000663.2:g.160040980C>T	GRCh38
NC_000001.10:g.160010770C>T , CM000663.1:g.160010770C>T	GRCh37
NC_000001.9:g.158277394C>T	NCBI36
NG_016411.1:g.34192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+854G>A
ENST00000636689.1:n.95-1632G>A
ENST00000637644.1:c.487+1066G>A	ENSP00000490282.1:n.487+1066G>A
ENST00000638728.1:c.*413G>A	ENSP00000492619.1:n.*413G>A
ENST00000638840.1:c.919+356G>A
ENST00000638868.1:c.*413G>A	ENSP00000491250.1:n.*413G>A
ENST00000639408.1:c.488-379G>A	ENSP00000491635.1:n.488-379G>A
ENST00000640017.1:c.670-379G>A	ENSP00000491337.1:n.670-379G>A
ENST00000640914.1:c.125-379G>A
ENST00000644903.1:c.*413G>A MANE Select	ENSP00000495557.1:n.*413G>A
ENST00000368089.3:c.*413G>A	ENSP00000357068.3:n.*413G>A
ENST00000509700.1:n.463-379G>A
NM_002241.4:c.*413G>A	NP_002232.2:n.*413G>A
NM_002241.5:c.*413G>A MANE Select	NP_002232.2:n.*413G>A