Canonical Allele Identifier: CA1883875298
Community Standard Title: NM_020822.3(KCNT1):c.2839A= (p.Lys947=)
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135779468A= , CM000671.2:g.135779468A= GRCh38
NC_000009.11:g.138671314A= , CM000671.1:g.138671314A= GRCh37
NC_000009.10:g.137811135A= NCBI36
NG_033070.1:g.82284A=

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.2839A= MANE Select NP_065873.2:p.Lys947=
ENST00000371757.7:c.2839A= MANE Select ENSP00000360822.2:p.Lys947=
NM_001272003.1:c.2704A= NP_001258932.1:p.Lys902=
NM_001272003.2:c.2704A= NP_001258932.1:p.Lys902=
NM_020822.2:c.2839A= NP_065873.2:p.Lys947=
ENST00000263604.5:c.2740A= ENSP00000263604.4:p.Lys914=
ENST00000371757.6:c.2839A= ENSP00000360822.2:p.Lys947=
ENST00000460750.5:c.*2449A= ENSP00000418777.1:n.*2449A=
ENST00000486577.6:c.2722A= ENSP00000417578.3:p.Lys908=
ENST00000487664.5:c.2839A= ENSP00000417851.2:p.Lys947=
ENST00000488444.6:c.2782A= ENSP00000419007.3:p.Lys928=
ENST00000490355.6:c.2776A= ENSP00000418003.3:p.Lys926=
ENST00000490363.3:n.2658A=
ENST00000491806.6:c.2782A= ENSP00000419086.3:p.Lys928=
ENST00000628528.2:c.2704A= ENSP00000486374.1:p.Lys902=
ENST00000630792.2:c.2674A= ENSP00000486486.1:p.Lys892=
ENST00000631073.2:c.2782A= ENSP00000486130.1:p.Lys928=
ENST00000631193.1:c.705A= ENSP00000486830.1:n.705A=
ENST00000674572.1:c.2680A= ENSP00000501742.1:p.Lys894=
ENST00000675090.1:c.2587A= ENSP00000501833.1:p.Lys863=
ENST00000675102.1:n.1373A=
ENST00000675399.1:c.2587A= ENSP00000501932.1:p.Lys863=
ENST00000676421.1:c.2596A= ENSP00000502322.1:p.Lys866=
XM_011518877.1:c.2974A= XP_011517179.1:p.Lys992=
XM_011518877.3:c.2974A= XP_011517179.1:p.Lys992=
XM_011518878.1:c.2983A= XP_011517180.1:p.Lys995=
XM_011518878.3:c.2983A= XP_011517180.1:p.Lys995=
XM_011518879.1:c.2974A= XP_011517181.1:p.Lys992=
XM_011518879.3:c.2974A= XP_011517181.1:p.Lys992=
XM_011518880.1:c.2740A= XP_011517182.1:p.Lys914=
XM_011518881.1:c.2329A= XP_011517183.1:p.Lys777=
XM_011518881.3:c.2329A= XP_011517183.1:p.Lys777=
XM_017014931.1:c.2773A= XP_016870420.1:p.Lys925=
XM_017014932.1:c.2596A= XP_016870421.1:p.Lys866=
XM_017014933.1:c.2329A= XP_016870422.1:p.Lys777=
XM_024447617.1:c.2329A= XP_024303385.1:p.Lys777=
XM_024447618.1:c.2329A= XP_024303386.1:p.Lys777=