Canonical Allele Identifier: CA1193181

Gene: KCNJ10

Linked Data

• dbSNP Id: rs748547971
• ExAC: 1:160011350 C / A
• gnomAD v2: 1-160011350-C-A
• gnomAD v4: 1-160041560-C-A
• MyVariant Identifiers: chr1:g.160011350C>A (hg19) ; chr1:g.160041560C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041560C>A , CM000663.2:g.160041560C>A	GRCh38
NC_000001.10:g.160011350C>A , CM000663.1:g.160011350C>A	GRCh37
NC_000001.9:g.158277974C>A	NCBI36
NG_016411.1:g.33612G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+274G>T
ENST00000636689.1:n.95-2212G>T
ENST00000637644.1:c.487+486G>T	ENSP00000490282.1:n.487+486G>T
ENST00000638728.1:c.973G>T	ENSP00000492619.1:p.Ala325Ser
ENST00000638840.1:c.695G>T
ENST00000638868.1:c.973G>T	ENSP00000491250.1:p.Ala325Ser
ENST00000639408.1:c.487+486G>T	ENSP00000491635.1:n.487+486G>T
ENST00000640017.1:c.669+274G>T	ENSP00000491337.1:n.669+274G>T
ENST00000640914.1:c.124+274G>T
ENST00000644903.1:c.973G>T MANE Select	ENSP00000495557.1:p.Ala325Ser
ENST00000368089.3:c.973G>T	ENSP00000357068.3:p.Ala325Ser
ENST00000509700.1:n.462+274G>T
NM_002241.4:c.973G>T	NP_002232.2:p.Ala325Ser
NM_002241.5:c.973G>T MANE Select	NP_002232.2:p.Ala325Ser