Canonical Allele Identifier: CA343223020
Gene: KCNJ10 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000509700.2:c.671+289T>C
ENST00000636689.1:n.95-2197T>C
ENST00000637644.1:c.487+501T>C ENSP00000490282.1:n.487+501T>C
ENST00000638728.1:c.988T>C ENSP00000492619.1:p.Phe330Leu
ENST00000638840.1:c.710T>C
ENST00000638868.1:c.988T>C ENSP00000491250.1:p.Phe330Leu
ENST00000639408.1:c.487+501T>C ENSP00000491635.1:n.487+501T>C
ENST00000640017.1:c.669+289T>C ENSP00000491337.1:n.669+289T>C
ENST00000640914.1:c.124+289T>C
ENST00000644903.1:c.988T>C MANE Select ENSP00000495557.1:p.Phe330Leu
ENST00000368089.3:c.988T>C ENSP00000357068.3:p.Phe330Leu
ENST00000509700.1:n.462+289T>C
NM_002241.4:c.988T>C NP_002232.2:p.Phe330Leu
NM_002241.5:c.988T>C MANE Select NP_002232.2:p.Phe330Leu