Canonical Allele Identifier: CA467698869

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1644539
• ClinVar RCV Id: RCV002140624
• dbSNP Id: rs2131577612
• gnomAD v4: 9-135785327-C-T
• MyVariant Identifiers: chr9:g.138677173C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135785327C>T , CM000671.2:g.135785327C>T	GRCh38
NC_000009.11:g.138677173C>T , CM000671.1:g.138677173C>T	GRCh37
NC_000009.10:g.137816994C>T	NCBI36
NG_033070.1:g.88143C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3174C>T MANE Select	ENSP00000360822.2:p.Ala1058=
ENST00000674572.1:c.3015C>T	ENSP00000501742.1:p.Ala1005=
ENST00000675090.1:c.2922C>T	ENSP00000501833.1:p.Ala974=
ENST00000675399.1:c.2922C>T	ENSP00000501932.1:p.Ala974=
ENST00000676421.1:c.2931C>T	ENSP00000502322.1:p.Ala977=
ENST00000263604.5:c.3075C>T	ENSP00000263604.4:p.Ala1025=
ENST00000371757.6:c.3174C>T	ENSP00000360822.2:p.Ala1058=
ENST00000460750.5:c.*2784C>T	ENSP00000418777.1:n.*2784C>T
ENST00000486577.6:c.3057C>T	ENSP00000417578.3:p.Ala1019=
ENST00000487664.5:c.3174C>T	ENSP00000417851.2:p.Ala1058=
ENST00000488444.6:c.3099+438C>T	ENSP00000419007.3:n.3099+438C>T
ENST00000490355.6:c.3111C>T	ENSP00000418003.3:p.Ala1037=
ENST00000490363.3:n.2993C>T
ENST00000491806.6:c.3117C>T	ENSP00000419086.3:p.Ala1039=
ENST00000628528.2:c.3039C>T	ENSP00000486374.1:p.Ala1013=
ENST00000630792.2:c.3009C>T	ENSP00000486486.1:p.Ala1003=
ENST00000631073.2:c.3117C>T	ENSP00000486130.1:p.Ala1039=
NM_001272003.1:c.3039C>T	NP_001258932.1:p.Ala1013=
NM_020822.2:c.3174C>T	NP_065873.2:p.Ala1058=
XM_011518877.1:c.3309C>T	XP_011517179.1:p.Ala1103=
XM_011518878.1:c.3318C>T	XP_011517180.1:p.Ala1106=
XM_011518879.1:c.3309C>T	XP_011517181.1:p.Ala1103=
XM_011518880.1:c.3075C>T	XP_011517182.1:p.Ala1025=
XM_011518881.1:c.2664C>T	XP_011517183.1:p.Ala888=
XM_011518877.3:c.3309C>T	XP_011517179.1:p.Ala1103=
XM_011518878.3:c.3318C>T	XP_011517180.1:p.Ala1106=
XM_011518879.3:c.3309C>T	XP_011517181.1:p.Ala1103=
XM_011518881.3:c.2664C>T	XP_011517183.1:p.Ala888=
XM_017014931.1:c.3108C>T	XP_016870420.1:p.Ala1036=
XM_017014932.1:c.2931C>T	XP_016870421.1:p.Ala977=
XM_017014933.1:c.2664C>T	XP_016870422.1:p.Ala888=
XM_024447617.1:c.2664C>T	XP_024303385.1:p.Ala888=
XM_024447618.1:c.2664C>T	XP_024303386.1:p.Ala888=
NM_020822.3:c.3174C>T MANE Select	NP_065873.2:p.Ala1058=
NM_001272003.2:c.3039C>T	NP_001258932.1:p.Ala1013=