Canonical Allele Identifier: CA5326850

Gene: KCNT1

Linked Data

• dbSNP Id: rs758891951
• ExAC: 9:138657611 G / GCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC
• MyVariant Identifiers: chr9:g.138657611_138657612insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC (hg19) ; chr9:g.135765765_135765766insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765765_135765766insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC , CM000671.2:g.135765765_135765766insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	GRCh38
NC_000009.11:g.138657611_138657612insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC , CM000671.1:g.138657611_138657612insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	GRCh37
NC_000009.10:g.137797432_137797433insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	NCBI36
NG_033070.1:g.68581_68582insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC MANE Select	ENSP00000360822.2:n.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000636003.1:c.27+5_27+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC
ENST00000636995.1:n.64+5_64+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC
ENST00000637798.1:n.76+5_76+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC
ENST00000674572.1:c.1178+5_1178+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000501742.1:n.1178+5_1178+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000675090.1:c.1085+5_1085+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000501833.1:n.1085+5_1085+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000675399.1:c.1085+5_1085+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000501932.1:n.1085+5_1085+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000676421.1:c.1094+5_1094+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000502322.1:n.1094+5_1094+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000263604.5:c.1238+5_1238+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000263604.4:n.1238+5_1238+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000371757.6:c.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000360822.2:n.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000460750.5:c.*947+5_*947+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000418777.1:n.*947+5_*947+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000486577.6:c.1220+5_1220+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000417578.3:n.1220+5_1220+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000487664.5:c.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000417851.2:n.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000488444.6:c.1280+5_1280+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000419007.3:n.1280+5_1280+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000490355.6:c.1280+5_1280+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000418003.3:n.1280+5_1280+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000490363.3:n.1156+5_1156+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC
ENST00000491806.6:c.1280+5_1280+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000419086.3:n.1280+5_1280+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000628528.2:c.1202+5_1202+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000486374.1:n.1202+5_1202+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000630792.2:c.1178+5_1178+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000486486.1:n.1178+5_1178+6insCTCAGCCTTGGTTTACCCCTTCAGT...
ENST00000631073.2:c.1280+5_1280+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	ENSP00000486130.1:n.1280+5_1280+6insCTCAGCCTTGGTTTACCCCTTCAGT...
NM_001272003.1:c.1202+5_1202+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	NP_001258932.1:n.1202+5_1202+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
NM_020822.2:c.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	NP_065873.2:n.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGC...
XM_011518877.1:c.1472+5_1472+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517179.1:n.1472+5_1472+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_011518878.1:c.1481+5_1481+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517180.1:n.1481+5_1481+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_011518879.1:c.1472+5_1472+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517181.1:n.1472+5_1472+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_011518880.1:c.1238+5_1238+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517182.1:n.1238+5_1238+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_011518881.1:c.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517183.1:n.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGG...
XM_011518877.3:c.1472+5_1472+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517179.1:n.1472+5_1472+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_011518878.3:c.1481+5_1481+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517180.1:n.1481+5_1481+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_011518879.3:c.1472+5_1472+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517181.1:n.1472+5_1472+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_011518881.3:c.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_011517183.1:n.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGG...
XM_017014931.1:c.1271+5_1271+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_016870420.1:n.1271+5_1271+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_017014932.1:c.1094+5_1094+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_016870421.1:n.1094+5_1094+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...
XM_017014933.1:c.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_016870422.1:n.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGG...
XM_024447617.1:c.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_024303385.1:n.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGG...
XM_024447618.1:c.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	XP_024303386.1:n.827+5_827+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGG...
NM_020822.3:c.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC MANE Select	NP_065873.2:n.1337+5_1337+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGC...
NM_001272003.2:c.1202+5_1202+6insCTCAGCCTTGGTTTACCCCTTCAGTGAGGGCAGACGCC	NP_001258932.1:n.1202+5_1202+6insCTCAGCCTTGGTTTACCCCTTCAGTGAG...