Canonical Allele Identifier: CA467698180

Gene: KCNT1

Linked Data

• dbSNP Id: rs1057524172
• gnomAD v2: 9-138657565-C-T
• gnomAD v4: 9-135765719-C-T
• MyVariant Identifiers: chr9:g.138657565C>T (hg19) ; chr9:g.135765719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765719C>T , CM000671.2:g.135765719C>T	GRCh38
NC_000009.11:g.138657565C>T , CM000671.1:g.138657565C>T	GRCh37
NC_000009.10:g.137797386C>T	NCBI36
NG_033070.1:g.68535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1296C>T MANE Select	ENSP00000360822.2:p.Leu432=
ENST00000636995.1:n.23C>T
ENST00000637798.1:n.35C>T
ENST00000674572.1:c.1137C>T	ENSP00000501742.1:p.Leu379=
ENST00000675090.1:c.1044C>T	ENSP00000501833.1:p.Leu348=
ENST00000675399.1:c.1044C>T	ENSP00000501932.1:p.Leu348=
ENST00000676421.1:c.1053C>T	ENSP00000502322.1:p.Leu351=
ENST00000263604.5:c.1197C>T	ENSP00000263604.4:p.Leu399=
ENST00000371757.6:c.1296C>T	ENSP00000360822.2:p.Leu432=
ENST00000460750.5:c.*906C>T	ENSP00000418777.1:n.*906C>T
ENST00000486577.6:c.1179C>T	ENSP00000417578.3:p.Leu393=
ENST00000487664.5:c.1296C>T	ENSP00000417851.2:p.Leu432=
ENST00000488444.6:c.1239C>T	ENSP00000419007.3:p.Leu413=
ENST00000490355.6:c.1239C>T	ENSP00000418003.3:p.Leu413=
ENST00000490363.3:n.1115C>T
ENST00000491806.6:c.1239C>T	ENSP00000419086.3:p.Leu413=
ENST00000628528.2:c.1161C>T	ENSP00000486374.1:p.Leu387=
ENST00000630792.2:c.1137C>T	ENSP00000486486.1:p.Leu379=
ENST00000631073.2:c.1239C>T	ENSP00000486130.1:p.Leu413=
NM_001272003.1:c.1161C>T	NP_001258932.1:p.Leu387=
NM_020822.2:c.1296C>T	NP_065873.2:p.Leu432=
XM_011518877.1:c.1431C>T	XP_011517179.1:p.Leu477=
XM_011518878.1:c.1440C>T	XP_011517180.1:p.Leu480=
XM_011518879.1:c.1431C>T	XP_011517181.1:p.Leu477=
XM_011518880.1:c.1197C>T	XP_011517182.1:p.Leu399=
XM_011518881.1:c.786C>T	XP_011517183.1:p.Leu262=
XM_011518877.3:c.1431C>T	XP_011517179.1:p.Leu477=
XM_011518878.3:c.1440C>T	XP_011517180.1:p.Leu480=
XM_011518879.3:c.1431C>T	XP_011517181.1:p.Leu477=
XM_011518881.3:c.786C>T	XP_011517183.1:p.Leu262=
XM_017014931.1:c.1230C>T	XP_016870420.1:p.Leu410=
XM_017014932.1:c.1053C>T	XP_016870421.1:p.Leu351=
XM_017014933.1:c.786C>T	XP_016870422.1:p.Leu262=
XM_024447617.1:c.786C>T	XP_024303385.1:p.Leu262=
XM_024447618.1:c.786C>T	XP_024303386.1:p.Leu262=
NM_020822.3:c.1296C>T MANE Select	NP_065873.2:p.Leu432=
NM_001272003.2:c.1161C>T	NP_001258932.1:p.Leu387=