Canonical Allele Identifier: CA375494018

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138683703C>A (hg19) ; chr9:g.135791857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791857C>A , CM000671.2:g.135791857C>A	GRCh38
NC_000009.11:g.138683703C>A , CM000671.1:g.138683703C>A	GRCh37
NC_000009.10:g.137823524C>A	NCBI36
NG_033070.1:g.94673C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3563C>A MANE Select	ENSP00000360822.2:p.Thr1188Lys
ENST00000674572.1:c.3467C>A	ENSP00000501742.1:p.Thr1156Lys
ENST00000675090.1:c.3311C>A	ENSP00000501833.1:p.Thr1104Lys
ENST00000675399.1:c.3374C>A	ENSP00000501932.1:p.Thr1125Lys
ENST00000676421.1:c.3383C>A	ENSP00000502322.1:p.Thr1128Lys
ENST00000263604.5:c.3527C>A	ENSP00000263604.4:p.Thr1176Lys
ENST00000371757.6:c.3563C>A	ENSP00000360822.2:p.Thr1188Lys
ENST00000460750.5:c.*3236C>A	ENSP00000418777.1:n.*3236C>A
ENST00000475008.1:n.2869C>A
ENST00000486577.6:c.3509C>A	ENSP00000417578.3:p.Thr1170Lys
ENST00000487664.5:c.3626C>A	ENSP00000417851.2:p.Thr1209Lys
ENST00000488444.6:c.3548C>A	ENSP00000419007.3:p.Thr1183Lys
ENST00000490355.6:c.3563C>A	ENSP00000418003.3:p.Thr1188Lys
ENST00000491806.6:c.3506C>A	ENSP00000419086.3:p.Thr1169Lys
ENST00000628528.2:c.3491C>A	ENSP00000486374.1:p.Thr1164Lys
ENST00000630792.2:c.3461C>A	ENSP00000486486.1:p.Thr1154Lys
ENST00000631073.2:c.3569C>A	ENSP00000486130.1:p.Thr1190Lys
NM_001272003.1:c.3491C>A	NP_001258932.1:p.Thr1164Lys
NM_020822.2:c.3563C>A	NP_065873.2:p.Thr1188Lys
XM_011518877.1:c.3761C>A	XP_011517179.1:p.Thr1254Lys
XM_011518878.1:c.3707C>A	XP_011517180.1:p.Thr1236Lys
XM_011518879.1:c.3698C>A	XP_011517181.1:p.Thr1233Lys
XM_011518880.1:c.3527C>A	XP_011517182.1:p.Thr1176Lys
XM_011518881.1:c.3116C>A	XP_011517183.1:p.Thr1039Lys
XM_011518877.3:c.3761C>A	XP_011517179.1:p.Thr1254Lys
XM_011518878.3:c.3707C>A	XP_011517180.1:p.Thr1236Lys
XM_011518879.3:c.3698C>A	XP_011517181.1:p.Thr1233Lys
XM_011518881.3:c.3116C>A	XP_011517183.1:p.Thr1039Lys
XM_017014931.1:c.3560C>A	XP_016870420.1:p.Thr1187Lys
XM_017014932.1:c.3383C>A	XP_016870421.1:p.Thr1128Lys
XM_017014933.1:c.3116C>A	XP_016870422.1:p.Thr1039Lys
XM_024447617.1:c.3116C>A	XP_024303385.1:p.Thr1039Lys
XM_024447618.1:c.3116C>A	XP_024303386.1:p.Thr1039Lys
NM_020822.3:c.3563C>A MANE Select	NP_065873.2:p.Thr1188Lys
NM_001272003.2:c.3491C>A	NP_001258932.1:p.Thr1164Lys