Canonical Allele Identifier: CA1883873618

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770426C= , CM000671.2:g.135770426C=	GRCh38
NC_000009.11:g.138662272C= , CM000671.1:g.138662272C=	GRCh37
NC_000009.10:g.137802093C=	NCBI36
NG_033070.1:g.73242C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1748C= MANE Select	ENSP00000360822.2:p.Ala583=
ENST00000674572.1:c.1589C=	ENSP00000501742.1:p.Ala530=
ENST00000675090.1:c.1496C=	ENSP00000501833.1:p.Ala499=
ENST00000675399.1:c.1496C=	ENSP00000501932.1:p.Ala499=
ENST00000676421.1:c.1505C=	ENSP00000502322.1:p.Ala502=
ENST00000263604.5:c.1649C=	ENSP00000263604.4:p.Ala550=
ENST00000371757.6:c.1748C=	ENSP00000360822.2:p.Ala583=
ENST00000460750.5:c.*1358C=	ENSP00000418777.1:n.*1358C=
ENST00000486577.6:c.1631C=	ENSP00000417578.3:p.Ala544=
ENST00000487664.5:c.1748C=	ENSP00000417851.2:p.Ala583=
ENST00000488444.6:c.1691C=	ENSP00000419007.3:p.Ala564=
ENST00000490355.6:c.1691C=	ENSP00000418003.3:p.Ala564=
ENST00000490363.3:n.1567C=
ENST00000491806.6:c.1691C=	ENSP00000419086.3:p.Ala564=
ENST00000628528.2:c.1613C=	ENSP00000486374.1:p.Ala538=
ENST00000630792.2:c.1589C=	ENSP00000486486.1:p.Ala530=
ENST00000631073.2:c.1691C=	ENSP00000486130.1:p.Ala564=
NM_001272003.1:c.1613C=	NP_001258932.1:p.Ala538=
NM_020822.2:c.1748C=	NP_065873.2:p.Ala583=
XM_011518877.1:c.1883C=	XP_011517179.1:p.Ala628=
XM_011518878.1:c.1892C=	XP_011517180.1:p.Ala631=
XM_011518879.1:c.1883C=	XP_011517181.1:p.Ala628=
XM_011518880.1:c.1649C=	XP_011517182.1:p.Ala550=
XM_011518881.1:c.1238C=	XP_011517183.1:p.Ala413=
XM_011518877.3:c.1883C=	XP_011517179.1:p.Ala628=
XM_011518878.3:c.1892C=	XP_011517180.1:p.Ala631=
XM_011518879.3:c.1883C=	XP_011517181.1:p.Ala628=
XM_011518881.3:c.1238C=	XP_011517183.1:p.Ala413=
XM_017014931.1:c.1682C=	XP_016870420.1:p.Ala561=
XM_017014932.1:c.1505C=	XP_016870421.1:p.Ala502=
XM_017014933.1:c.1238C=	XP_016870422.1:p.Ala413=
XM_024447617.1:c.1238C=	XP_024303385.1:p.Ala413=
XM_024447618.1:c.1238C=	XP_024303386.1:p.Ala413=
NM_020822.3:c.1748C= MANE Select	NP_065873.2:p.Ala583=
NM_001272003.2:c.1613C=	NP_001258932.1:p.Ala538=