Canonical Allele Identifier: CA1883875231
Community Standard Title: NM_020822.3(KCNT1):c.2800G= (p.Ala934=)
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135779429G= , CM000671.2:g.135779429G= GRCh38
NC_000009.11:g.138671275G= , CM000671.1:g.138671275G= GRCh37
NC_000009.10:g.137811096G= NCBI36
NG_033070.1:g.82245G=

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.2800G= MANE Select NP_065873.2:p.Ala934=
ENST00000371757.7:c.2800G= MANE Select ENSP00000360822.2:p.Ala934=
NM_001272003.1:c.2665G= NP_001258932.1:p.Ala889=
NM_001272003.2:c.2665G= NP_001258932.1:p.Ala889=
NM_020822.2:c.2800G= NP_065873.2:p.Ala934=
ENST00000263604.5:c.2701G= ENSP00000263604.4:p.Ala901=
ENST00000371757.6:c.2800G= ENSP00000360822.2:p.Ala934=
ENST00000460750.5:c.*2410G= ENSP00000418777.1:n.*2410G=
ENST00000486577.6:c.2683G= ENSP00000417578.3:p.Ala895=
ENST00000487664.5:c.2800G= ENSP00000417851.2:p.Ala934=
ENST00000488444.6:c.2743G= ENSP00000419007.3:p.Ala915=
ENST00000490355.6:c.2737G= ENSP00000418003.3:p.Ala913=
ENST00000490363.3:n.2619G=
ENST00000491806.6:c.2743G= ENSP00000419086.3:p.Ala915=
ENST00000628528.2:c.2665G= ENSP00000486374.1:p.Ala889=
ENST00000630792.2:c.2635G= ENSP00000486486.1:p.Ala879=
ENST00000631073.2:c.2743G= ENSP00000486130.1:p.Ala915=
ENST00000631193.1:c.666G= ENSP00000486830.1:n.666G=
ENST00000674572.1:c.2641G= ENSP00000501742.1:p.Ala881=
ENST00000675090.1:c.2548G= ENSP00000501833.1:p.Ala850=
ENST00000675102.1:n.1334G=
ENST00000675399.1:c.2548G= ENSP00000501932.1:p.Ala850=
ENST00000676421.1:c.2557G= ENSP00000502322.1:p.Ala853=
XM_011518877.1:c.2935G= XP_011517179.1:p.Ala979=
XM_011518877.3:c.2935G= XP_011517179.1:p.Ala979=
XM_011518878.1:c.2944G= XP_011517180.1:p.Ala982=
XM_011518878.3:c.2944G= XP_011517180.1:p.Ala982=
XM_011518879.1:c.2935G= XP_011517181.1:p.Ala979=
XM_011518879.3:c.2935G= XP_011517181.1:p.Ala979=
XM_011518880.1:c.2701G= XP_011517182.1:p.Ala901=
XM_011518881.1:c.2290G= XP_011517183.1:p.Ala764=
XM_011518881.3:c.2290G= XP_011517183.1:p.Ala764=
XM_017014931.1:c.2734G= XP_016870420.1:p.Ala912=
XM_017014932.1:c.2557G= XP_016870421.1:p.Ala853=
XM_017014933.1:c.2290G= XP_016870422.1:p.Ala764=
XM_024447617.1:c.2290G= XP_024303385.1:p.Ala764=
XM_024447618.1:c.2290G= XP_024303386.1:p.Ala764=