Canonical Allele Identifier: CA16603479
Community Standard Title: NM_002241.5(KCNJ10):c.147C>T (p.Phe49=)
Gene: KCNJ10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160042386G>A , CM000663.2:g.160042386G>A GRCh38
NC_000001.10:g.160012176G>A , CM000663.1:g.160012176G>A GRCh37
NC_000001.9:g.158278800G>A NCBI36
NG_016411.1:g.32786C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002241.5:c.147C>T MANE Select NP_002232.2:p.Phe49=
ENST00000644903.1:c.147C>T MANE Select ENSP00000495557.1:p.Phe49=
NM_002241.4:c.147C>T NP_002232.2:p.Phe49=
ENST00000368089.3:c.147C>T ENSP00000357068.3:p.Phe49=
ENST00000509700.2:c.119C>T
ENST00000636689.1:n.95-3038C>T
ENST00000637644.1:c.147C>T ENSP00000490282.1:p.Phe49=
ENST00000638728.1:c.147C>T ENSP00000492619.1:p.Phe49=
ENST00000638868.1:c.147C>T ENSP00000491250.1:p.Phe49=
ENST00000639408.1:c.147C>T ENSP00000491635.1:p.Phe49=
ENST00000640017.1:c.117C>T ENSP00000491337.1:p.Phe39=