Canonical Allele Identifier: CA658797372

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 540588
• ClinVar RCV Id: RCV000650665 ; RCV001551495 ; RCV002270931 ; RCV002270930
• dbSNP Id: rs1554773537

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765749_135765750delinsAT , CM000671.2:g.135765749_135765750delinsAT	GRCh38
NC_000009.11:g.138657595_138657596delinsAT , CM000671.1:g.138657595_138657596delinsAT	GRCh37
NC_000009.10:g.137797416_137797417delinsAT	NCBI36
NG_033070.1:g.68565_68566delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1326_1327delinsAT MANE Select	ENSP00000360822.2:p.Met443Leu
ENST00000636003.1:c.16_17delinsAT
ENST00000636995.1:n.53_54delinsAT
ENST00000637798.1:n.65_66delinsAT
ENST00000674572.1:c.1167_1168delinsAT	ENSP00000501742.1:p.Met390Leu
ENST00000675090.1:c.1074_1075delinsAT	ENSP00000501833.1:p.Met359Leu
ENST00000675399.1:c.1074_1075delinsAT	ENSP00000501932.1:p.Met359Leu
ENST00000676421.1:c.1083_1084delinsAT	ENSP00000502322.1:p.Met362Leu
ENST00000263604.5:c.1227_1228delinsAT	ENSP00000263604.4:p.Met410Leu
ENST00000371757.6:c.1326_1327delinsAT	ENSP00000360822.2:p.Met443Leu
ENST00000460750.5:c.*936_*937delinsAT	ENSP00000418777.1:n.*936_*937delinsAT
ENST00000486577.6:c.1209_1210delinsAT	ENSP00000417578.3:p.Met404Leu
ENST00000487664.5:c.1326_1327delinsAT	ENSP00000417851.2:p.Met443Leu
ENST00000488444.6:c.1269_1270delinsAT	ENSP00000419007.3:p.Met424Leu
ENST00000490355.6:c.1269_1270delinsAT	ENSP00000418003.3:p.Met424Leu
ENST00000490363.3:n.1145_1146delinsAT
ENST00000491806.6:c.1269_1270delinsAT	ENSP00000419086.3:p.Met424Leu
ENST00000628528.2:c.1191_1192delinsAT	ENSP00000486374.1:p.Met398Leu
ENST00000630792.2:c.1167_1168delinsAT	ENSP00000486486.1:p.Met390Leu
ENST00000631073.2:c.1269_1270delinsAT	ENSP00000486130.1:p.Met424Leu
NM_001272003.1:c.1191_1192delinsAT	NP_001258932.1:p.Met398Leu
NM_020822.2:c.1326_1327delinsAT	NP_065873.2:p.Met443Leu
XM_011518877.1:c.1461_1462delinsAT	XP_011517179.1:p.Met488Leu
XM_011518878.1:c.1470_1471delinsAT	XP_011517180.1:p.Met491Leu
XM_011518879.1:c.1461_1462delinsAT	XP_011517181.1:p.Met488Leu
XM_011518880.1:c.1227_1228delinsAT	XP_011517182.1:p.Met410Leu
XM_011518881.1:c.816_817delinsAT	XP_011517183.1:p.Met273Leu
XM_011518877.3:c.1461_1462delinsAT	XP_011517179.1:p.Met488Leu
XM_011518878.3:c.1470_1471delinsAT	XP_011517180.1:p.Met491Leu
XM_011518879.3:c.1461_1462delinsAT	XP_011517181.1:p.Met488Leu
XM_011518881.3:c.816_817delinsAT	XP_011517183.1:p.Met273Leu
XM_017014931.1:c.1260_1261delinsAT	XP_016870420.1:p.Met421Leu
XM_017014932.1:c.1083_1084delinsAT	XP_016870421.1:p.Met362Leu
XM_017014933.1:c.816_817delinsAT	XP_016870422.1:p.Met273Leu
XM_024447617.1:c.816_817delinsAT	XP_024303385.1:p.Met273Leu
XM_024447618.1:c.816_817delinsAT	XP_024303386.1:p.Met273Leu
NM_020822.3:c.1326_1327delinsAT MANE Select	NP_065873.2:p.Met443Leu
NM_001272003.2:c.1191_1192delinsAT	NP_001258932.1:p.Met398Leu