Canonical Allele Identifier: CA343222642

Gene: KCNJ10

Linked Data

• ClinVar Variation Id: 577075
• ClinVar RCV Id: RCV000699736
• dbSNP Id: rs1557967589
• MyVariant Identifiers: chr1:g.160011308G>A (hg19) ; chr1:g.160041518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041518G>A , CM000663.2:g.160041518G>A	GRCh38
NC_000001.10:g.160011308G>A , CM000663.1:g.160011308G>A	GRCh37
NC_000001.9:g.158277932G>A	NCBI36
NG_016411.1:g.33654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509700.2:c.671+316C>T
ENST00000636689.1:n.95-2170C>T
ENST00000637644.1:c.487+528C>T	ENSP00000490282.1:n.487+528C>T
ENST00000638728.1:c.1015C>T	ENSP00000492619.1:p.Pro339Ser
ENST00000638840.1:c.737C>T
ENST00000638868.1:c.1015C>T	ENSP00000491250.1:p.Pro339Ser
ENST00000639408.1:c.487+528C>T	ENSP00000491635.1:n.487+528C>T
ENST00000640017.1:c.669+316C>T	ENSP00000491337.1:n.669+316C>T
ENST00000640914.1:c.124+316C>T
ENST00000644903.1:c.1015C>T MANE Select	ENSP00000495557.1:p.Pro339Ser
ENST00000368089.3:c.1015C>T	ENSP00000357068.3:p.Pro339Ser
ENST00000509700.1:n.462+316C>T
NM_002241.4:c.1015C>T	NP_002232.2:p.Pro339Ser
NM_002241.5:c.1015C>T MANE Select	NP_002232.2:p.Pro339Ser