Canonical Allele Identifier: CA467701212

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 798477
• ClinVar RCV Id: RCV001473825
• dbSNP Id: rs530040739
• MyVariant Identifiers: chr9:g.138683704G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791858G>C , CM000671.2:g.135791858G>C	GRCh38
NC_000009.11:g.138683704G>C , CM000671.1:g.138683704G>C	GRCh37
NC_000009.10:g.137823525G>C	NCBI36
NG_033070.1:g.94674G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3564G>C MANE Select	ENSP00000360822.2:p.Thr1188=
ENST00000674572.1:c.3468G>C	ENSP00000501742.1:p.Thr1156=
ENST00000675090.1:c.3312G>C	ENSP00000501833.1:p.Thr1104=
ENST00000675399.1:c.3375G>C	ENSP00000501932.1:p.Thr1125=
ENST00000676421.1:c.3384G>C	ENSP00000502322.1:p.Thr1128=
ENST00000263604.5:c.3528G>C	ENSP00000263604.4:p.Thr1176=
ENST00000371757.6:c.3564G>C	ENSP00000360822.2:p.Thr1188=
ENST00000460750.5:c.*3237G>C	ENSP00000418777.1:n.*3237G>C
ENST00000475008.1:n.2870G>C
ENST00000486577.6:c.3510G>C	ENSP00000417578.3:p.Thr1170=
ENST00000487664.5:c.3627G>C	ENSP00000417851.2:p.Thr1209=
ENST00000488444.6:c.3549G>C	ENSP00000419007.3:p.Thr1183=
ENST00000490355.6:c.3564G>C	ENSP00000418003.3:p.Thr1188=
ENST00000491806.6:c.3507G>C	ENSP00000419086.3:p.Thr1169=
ENST00000628528.2:c.3492G>C	ENSP00000486374.1:p.Thr1164=
ENST00000630792.2:c.3462G>C	ENSP00000486486.1:p.Thr1154=
ENST00000631073.2:c.3570G>C	ENSP00000486130.1:p.Thr1190=
NM_001272003.1:c.3492G>C	NP_001258932.1:p.Thr1164=
NM_020822.2:c.3564G>C	NP_065873.2:p.Thr1188=
XM_011518877.1:c.3762G>C	XP_011517179.1:p.Thr1254=
XM_011518878.1:c.3708G>C	XP_011517180.1:p.Thr1236=
XM_011518879.1:c.3699G>C	XP_011517181.1:p.Thr1233=
XM_011518880.1:c.3528G>C	XP_011517182.1:p.Thr1176=
XM_011518881.1:c.3117G>C	XP_011517183.1:p.Thr1039=
XM_011518877.3:c.3762G>C	XP_011517179.1:p.Thr1254=
XM_011518878.3:c.3708G>C	XP_011517180.1:p.Thr1236=
XM_011518879.3:c.3699G>C	XP_011517181.1:p.Thr1233=
XM_011518881.3:c.3117G>C	XP_011517183.1:p.Thr1039=
XM_017014931.1:c.3561G>C	XP_016870420.1:p.Thr1187=
XM_017014932.1:c.3384G>C	XP_016870421.1:p.Thr1128=
XM_017014933.1:c.3117G>C	XP_016870422.1:p.Thr1039=
XM_024447617.1:c.3117G>C	XP_024303385.1:p.Thr1039=
XM_024447618.1:c.3117G>C	XP_024303386.1:p.Thr1039=
NM_020822.3:c.3564G>C MANE Select	NP_065873.2:p.Thr1188=
NM_001272003.2:c.3492G>C	NP_001258932.1:p.Thr1164=