Canonical Allele Identifier: CA31468248
Community Standard Title: NM_002241.5(KCNJ10):c.*2148A>G
Gene: KCNJ10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160039245T>C , CM000663.2:g.160039245T>C GRCh38
NC_000001.10:g.160009035T>C , CM000663.1:g.160009035T>C GRCh37
NC_000001.9:g.158275659T>C NCBI36
NG_016411.1:g.35927A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002241.5:c.*2148A>G MANE Select NP_002232.2:n.*2148A>G
ENST00000644903.1:c.*2148A>G MANE Select ENSP00000495557.1:n.*2148A>G
NM_002241.4:c.*2148A>G NP_002232.2:n.*2148A>G
ENST00000368089.3:c.*2148A>G ENSP00000357068.3:n.*2148A>G
ENST00000509700.2:c.671+2589A>G
ENST00000636689.1:n.198A>G
ENST00000637644.1:c.487+2801A>G ENSP00000490282.1:n.487+2801A>G
ENST00000638728.1:c.*2148A>G ENSP00000492619.1:n.*2148A>G
ENST00000638840.1:c.2276A>G
ENST00000638868.1:c.*2148A>G ENSP00000491250.1:n.*2148A>G
ENST00000639408.1:c.587+1257A>G ENSP00000491635.1:n.587+1257A>G
ENST00000640017.1:c.2026A>G ENSP00000491337.1:n.2026A>G
ENST00000640914.1:c.224+1257A>G