Canonical Allele Identifier: CA375501543

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135765706-G-T
• MyVariant Identifiers: chr9:g.138657552G>T (hg19) ; chr9:g.135765706G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765706G>T , CM000671.2:g.135765706G>T	GRCh38
NC_000009.11:g.138657552G>T , CM000671.1:g.138657552G>T	GRCh37
NC_000009.10:g.137797373G>T	NCBI36
NG_033070.1:g.68522G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1283G>T MANE Select	ENSP00000360822.2:p.Arg428Leu
ENST00000636995.1:n.10G>T
ENST00000637798.1:n.22G>T
ENST00000674572.1:c.1124G>T	ENSP00000501742.1:p.Arg375Leu
ENST00000675090.1:c.1031G>T	ENSP00000501833.1:p.Arg344Leu
ENST00000675399.1:c.1031G>T	ENSP00000501932.1:p.Arg344Leu
ENST00000676421.1:c.1040G>T	ENSP00000502322.1:p.Arg347Leu
ENST00000263604.5:c.1184G>T	ENSP00000263604.4:p.Arg395Leu
ENST00000371757.6:c.1283G>T	ENSP00000360822.2:p.Arg428Leu
ENST00000460750.5:c.*893G>T	ENSP00000418777.1:n.*893G>T
ENST00000486577.6:c.1166G>T	ENSP00000417578.3:p.Arg389Leu
ENST00000487664.5:c.1283G>T	ENSP00000417851.2:p.Arg428Leu
ENST00000488444.6:c.1226G>T	ENSP00000419007.3:p.Arg409Leu
ENST00000490355.6:c.1226G>T	ENSP00000418003.3:p.Arg409Leu
ENST00000490363.3:n.1102G>T
ENST00000491806.6:c.1226G>T	ENSP00000419086.3:p.Arg409Leu
ENST00000628528.2:c.1148G>T	ENSP00000486374.1:p.Arg383Leu
ENST00000630792.2:c.1124G>T	ENSP00000486486.1:p.Arg375Leu
ENST00000631073.2:c.1226G>T	ENSP00000486130.1:p.Arg409Leu
NM_001272003.1:c.1148G>T	NP_001258932.1:p.Arg383Leu
NM_020822.2:c.1283G>T	NP_065873.2:p.Arg428Leu
XM_011518877.1:c.1418G>T	XP_011517179.1:p.Arg473Leu
XM_011518878.1:c.1427G>T	XP_011517180.1:p.Arg476Leu
XM_011518879.1:c.1418G>T	XP_011517181.1:p.Arg473Leu
XM_011518880.1:c.1184G>T	XP_011517182.1:p.Arg395Leu
XM_011518881.1:c.773G>T	XP_011517183.1:p.Arg258Leu
XM_011518877.3:c.1418G>T	XP_011517179.1:p.Arg473Leu
XM_011518878.3:c.1427G>T	XP_011517180.1:p.Arg476Leu
XM_011518879.3:c.1418G>T	XP_011517181.1:p.Arg473Leu
XM_011518881.3:c.773G>T	XP_011517183.1:p.Arg258Leu
XM_017014931.1:c.1217G>T	XP_016870420.1:p.Arg406Leu
XM_017014932.1:c.1040G>T	XP_016870421.1:p.Arg347Leu
XM_017014933.1:c.773G>T	XP_016870422.1:p.Arg258Leu
XM_024447617.1:c.773G>T	XP_024303385.1:p.Arg258Leu
XM_024447618.1:c.773G>T	XP_024303386.1:p.Arg258Leu
NM_020822.3:c.1283G>T MANE Select	NP_065873.2:p.Arg428Leu
NM_001272003.2:c.1148G>T	NP_001258932.1:p.Arg383Leu