Canonical Allele Identifier: CA375494013

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138683702A>C (hg19) ; chr9:g.135791856A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791856A>C , CM000671.2:g.135791856A>C	GRCh38
NC_000009.11:g.138683702A>C , CM000671.1:g.138683702A>C	GRCh37
NC_000009.10:g.137823523A>C	NCBI36
NG_033070.1:g.94672A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3562A>C MANE Select	ENSP00000360822.2:p.Thr1188Pro
ENST00000674572.1:c.3466A>C	ENSP00000501742.1:p.Thr1156Pro
ENST00000675090.1:c.3310A>C	ENSP00000501833.1:p.Thr1104Pro
ENST00000675399.1:c.3373A>C	ENSP00000501932.1:p.Thr1125Pro
ENST00000676421.1:c.3382A>C	ENSP00000502322.1:p.Thr1128Pro
ENST00000263604.5:c.3526A>C	ENSP00000263604.4:p.Thr1176Pro
ENST00000371757.6:c.3562A>C	ENSP00000360822.2:p.Thr1188Pro
ENST00000460750.5:c.*3235A>C	ENSP00000418777.1:n.*3235A>C
ENST00000475008.1:n.2868A>C
ENST00000486577.6:c.3508A>C	ENSP00000417578.3:p.Thr1170Pro
ENST00000487664.5:c.3625A>C	ENSP00000417851.2:p.Thr1209Pro
ENST00000488444.6:c.3547A>C	ENSP00000419007.3:p.Thr1183Pro
ENST00000490355.6:c.3562A>C	ENSP00000418003.3:p.Thr1188Pro
ENST00000491806.6:c.3505A>C	ENSP00000419086.3:p.Thr1169Pro
ENST00000628528.2:c.3490A>C	ENSP00000486374.1:p.Thr1164Pro
ENST00000630792.2:c.3460A>C	ENSP00000486486.1:p.Thr1154Pro
ENST00000631073.2:c.3568A>C	ENSP00000486130.1:p.Thr1190Pro
NM_001272003.1:c.3490A>C	NP_001258932.1:p.Thr1164Pro
NM_020822.2:c.3562A>C	NP_065873.2:p.Thr1188Pro
XM_011518877.1:c.3760A>C	XP_011517179.1:p.Thr1254Pro
XM_011518878.1:c.3706A>C	XP_011517180.1:p.Thr1236Pro
XM_011518879.1:c.3697A>C	XP_011517181.1:p.Thr1233Pro
XM_011518880.1:c.3526A>C	XP_011517182.1:p.Thr1176Pro
XM_011518881.1:c.3115A>C	XP_011517183.1:p.Thr1039Pro
XM_011518877.3:c.3760A>C	XP_011517179.1:p.Thr1254Pro
XM_011518878.3:c.3706A>C	XP_011517180.1:p.Thr1236Pro
XM_011518879.3:c.3697A>C	XP_011517181.1:p.Thr1233Pro
XM_011518881.3:c.3115A>C	XP_011517183.1:p.Thr1039Pro
XM_017014931.1:c.3559A>C	XP_016870420.1:p.Thr1187Pro
XM_017014932.1:c.3382A>C	XP_016870421.1:p.Thr1128Pro
XM_017014933.1:c.3115A>C	XP_016870422.1:p.Thr1039Pro
XM_024447617.1:c.3115A>C	XP_024303385.1:p.Thr1039Pro
XM_024447618.1:c.3115A>C	XP_024303386.1:p.Thr1039Pro
NM_020822.3:c.3562A>C MANE Select	NP_065873.2:p.Thr1188Pro
NM_001272003.2:c.3490A>C	NP_001258932.1:p.Thr1164Pro