Canonical Allele Identifier: CA343223025

Gene: KCNJ10

Linked Data

• MyVariant Identifiers: chr1:g.160011335A>T (hg19) ; chr1:g.160041545A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160041545A>T , CM000663.2:g.160041545A>T	GRCh38
NC_000001.10:g.160011335A>T , CM000663.1:g.160011335A>T	GRCh37
NC_000001.9:g.158277959A>T	NCBI36
NG_016411.1:g.33627T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509700.2:c.671+289T>A
ENST00000636689.1:n.95-2197T>A
ENST00000637644.1:c.487+501T>A	ENSP00000490282.1:n.487+501T>A
ENST00000638728.1:c.988T>A	ENSP00000492619.1:p.Phe330Ile
ENST00000638840.1:c.710T>A
ENST00000638868.1:c.988T>A	ENSP00000491250.1:p.Phe330Ile
ENST00000639408.1:c.487+501T>A	ENSP00000491635.1:n.487+501T>A
ENST00000640017.1:c.669+289T>A	ENSP00000491337.1:n.669+289T>A
ENST00000640914.1:c.124+289T>A
ENST00000644903.1:c.988T>A MANE Select	ENSP00000495557.1:p.Phe330Ile
ENST00000368089.3:c.988T>A	ENSP00000357068.3:p.Phe330Ile
ENST00000509700.1:n.462+289T>A
NM_002241.4:c.988T>A	NP_002232.2:p.Phe330Ile
NM_002241.5:c.988T>A MANE Select	NP_002232.2:p.Phe330Ile