Canonical Allele Identifier: CA1883866697
Community Standard Title: NM_020822.3(KCNT1):c.1309C= (p.Leu437=)
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765732C= , CM000671.2:g.135765732C= GRCh38
NC_000009.11:g.138657578C= , CM000671.1:g.138657578C= GRCh37
NC_000009.10:g.137797399C= NCBI36
NG_033070.1:g.68548C=

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.1309C= MANE Select NP_065873.2:p.Leu437=
ENST00000371757.7:c.1309C= MANE Select ENSP00000360822.2:p.Leu437=
NM_001272003.1:c.1174C= NP_001258932.1:p.Leu392=
NM_001272003.2:c.1174C= NP_001258932.1:p.Leu392=
NM_020822.2:c.1309C= NP_065873.2:p.Leu437=
ENST00000263604.5:c.1210C= ENSP00000263604.4:p.Leu404=
ENST00000371757.6:c.1309C= ENSP00000360822.2:p.Leu437=
ENST00000460750.5:c.*919C= ENSP00000418777.1:n.*919C=
ENST00000486577.6:c.1192C= ENSP00000417578.3:p.Leu398=
ENST00000487664.5:c.1309C= ENSP00000417851.2:p.Leu437=
ENST00000488444.6:c.1252C= ENSP00000419007.3:p.Leu418=
ENST00000490355.6:c.1252C= ENSP00000418003.3:p.Leu418=
ENST00000490363.3:n.1128C=
ENST00000491806.6:c.1252C= ENSP00000419086.3:p.Leu418=
ENST00000628528.2:c.1174C= ENSP00000486374.1:p.Leu392=
ENST00000630792.2:c.1150C= ENSP00000486486.1:p.Leu384=
ENST00000631073.2:c.1252C= ENSP00000486130.1:p.Leu418=
ENST00000636995.1:n.36C=
ENST00000637798.1:n.48C=
ENST00000674572.1:c.1150C= ENSP00000501742.1:p.Leu384=
ENST00000675090.1:c.1057C= ENSP00000501833.1:p.Leu353=
ENST00000675399.1:c.1057C= ENSP00000501932.1:p.Leu353=
ENST00000676421.1:c.1066C= ENSP00000502322.1:p.Leu356=
XM_011518877.1:c.1444C= XP_011517179.1:p.Leu482=
XM_011518877.3:c.1444C= XP_011517179.1:p.Leu482=
XM_011518878.1:c.1453C= XP_011517180.1:p.Leu485=
XM_011518878.3:c.1453C= XP_011517180.1:p.Leu485=
XM_011518879.1:c.1444C= XP_011517181.1:p.Leu482=
XM_011518879.3:c.1444C= XP_011517181.1:p.Leu482=
XM_011518880.1:c.1210C= XP_011517182.1:p.Leu404=
XM_011518881.1:c.799C= XP_011517183.1:p.Leu267=
XM_011518881.3:c.799C= XP_011517183.1:p.Leu267=
XM_017014931.1:c.1243C= XP_016870420.1:p.Leu415=
XM_017014932.1:c.1066C= XP_016870421.1:p.Leu356=
XM_017014933.1:c.799C= XP_016870422.1:p.Leu267=
XM_024447617.1:c.799C= XP_024303385.1:p.Leu267=
XM_024447618.1:c.799C= XP_024303386.1:p.Leu267=