Canonical Allele Identifier: CA1883875197
Community Standard Title: NM_020822.3(KCNT1):c.2794T= (p.Phe932=)
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135779423T= , CM000671.2:g.135779423T= GRCh38
NC_000009.11:g.138671269T= , CM000671.1:g.138671269T= GRCh37
NC_000009.10:g.137811090T= NCBI36
NG_033070.1:g.82239T=

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.2794T= MANE Select NP_065873.2:p.Phe932=
ENST00000371757.7:c.2794T= MANE Select ENSP00000360822.2:p.Phe932=
NM_001272003.1:c.2659T= NP_001258932.1:p.Phe887=
NM_001272003.2:c.2659T= NP_001258932.1:p.Phe887=
NM_020822.2:c.2794T= NP_065873.2:p.Phe932=
ENST00000263604.5:c.2695T= ENSP00000263604.4:p.Phe899=
ENST00000371757.6:c.2794T= ENSP00000360822.2:p.Phe932=
ENST00000460750.5:c.*2404T= ENSP00000418777.1:n.*2404T=
ENST00000486577.6:c.2677T= ENSP00000417578.3:p.Phe893=
ENST00000487664.5:c.2794T= ENSP00000417851.2:p.Phe932=
ENST00000488444.6:c.2737T= ENSP00000419007.3:p.Phe913=
ENST00000490355.6:c.2731T= ENSP00000418003.3:p.Phe911=
ENST00000490363.3:n.2613T=
ENST00000491806.6:c.2737T= ENSP00000419086.3:p.Phe913=
ENST00000628528.2:c.2659T= ENSP00000486374.1:p.Phe887=
ENST00000630792.2:c.2629T= ENSP00000486486.1:p.Phe877=
ENST00000631073.2:c.2737T= ENSP00000486130.1:p.Phe913=
ENST00000631193.1:c.660T= ENSP00000486830.1:n.660T=
ENST00000674572.1:c.2635T= ENSP00000501742.1:p.Phe879=
ENST00000675090.1:c.2542T= ENSP00000501833.1:p.Phe848=
ENST00000675102.1:n.1328T=
ENST00000675399.1:c.2542T= ENSP00000501932.1:p.Phe848=
ENST00000676421.1:c.2551T= ENSP00000502322.1:p.Phe851=
XM_011518877.1:c.2929T= XP_011517179.1:p.Phe977=
XM_011518877.3:c.2929T= XP_011517179.1:p.Phe977=
XM_011518878.1:c.2938T= XP_011517180.1:p.Phe980=
XM_011518878.3:c.2938T= XP_011517180.1:p.Phe980=
XM_011518879.1:c.2929T= XP_011517181.1:p.Phe977=
XM_011518879.3:c.2929T= XP_011517181.1:p.Phe977=
XM_011518880.1:c.2695T= XP_011517182.1:p.Phe899=
XM_011518881.1:c.2284T= XP_011517183.1:p.Phe762=
XM_011518881.3:c.2284T= XP_011517183.1:p.Phe762=
XM_017014931.1:c.2728T= XP_016870420.1:p.Phe910=
XM_017014932.1:c.2551T= XP_016870421.1:p.Phe851=
XM_017014933.1:c.2284T= XP_016870422.1:p.Phe762=
XM_024447617.1:c.2284T= XP_024303385.1:p.Phe762=
XM_024447618.1:c.2284T= XP_024303386.1:p.Phe762=