Canonical Allele Identifier: CA31468290
Community Standard Title: NM_002241.5(KCNJ10):c.*2034C>T
Gene: KCNJ10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160039359G>A , CM000663.2:g.160039359G>A GRCh38
NC_000001.10:g.160009149G>A , CM000663.1:g.160009149G>A GRCh37
NC_000001.9:g.158275773G>A NCBI36
NG_016411.1:g.35813C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002241.5:c.*2034C>T MANE Select NP_002232.2:n.*2034C>T
ENST00000644903.1:c.*2034C>T MANE Select ENSP00000495557.1:n.*2034C>T
NM_002241.4:c.*2034C>T NP_002232.2:n.*2034C>T
ENST00000368089.3:c.*2034C>T ENSP00000357068.3:n.*2034C>T
ENST00000509700.2:c.671+2475C>T
ENST00000636689.1:n.95-11C>T
ENST00000637644.1:c.487+2687C>T ENSP00000490282.1:n.487+2687C>T
ENST00000638728.1:c.*2034C>T ENSP00000492619.1:n.*2034C>T
ENST00000638840.1:c.2162C>T
ENST00000638868.1:c.*2034C>T ENSP00000491250.1:n.*2034C>T
ENST00000639408.1:c.587+1143C>T ENSP00000491635.1:n.587+1143C>T
ENST00000640017.1:c.1912C>T ENSP00000491337.1:n.1912C>T
ENST00000640914.1:c.224+1143C>T