Canonical Allele Identifier: CA375493879

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138683681C>A (hg19) ; chr9:g.135791835C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791835C>A , CM000671.2:g.135791835C>A	GRCh38
NC_000009.11:g.138683681C>A , CM000671.1:g.138683681C>A	GRCh37
NC_000009.10:g.137823502C>A	NCBI36
NG_033070.1:g.94651C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3541C>A MANE Select	ENSP00000360822.2:p.Leu1181Ile
ENST00000674572.1:c.3445C>A	ENSP00000501742.1:p.Leu1149Ile
ENST00000675090.1:c.3289C>A	ENSP00000501833.1:p.Leu1097Ile
ENST00000675399.1:c.3352C>A	ENSP00000501932.1:p.Leu1118Ile
ENST00000676421.1:c.3361C>A	ENSP00000502322.1:p.Leu1121Ile
ENST00000263604.5:c.3505C>A	ENSP00000263604.4:p.Leu1169Ile
ENST00000371757.6:c.3541C>A	ENSP00000360822.2:p.Leu1181Ile
ENST00000460750.5:c.*3214C>A	ENSP00000418777.1:n.*3214C>A
ENST00000475008.1:n.2847C>A
ENST00000486577.6:c.3487C>A	ENSP00000417578.3:p.Leu1163Ile
ENST00000487664.5:c.3604C>A	ENSP00000417851.2:p.Leu1202Ile
ENST00000488444.6:c.3526C>A	ENSP00000419007.3:p.Leu1176Ile
ENST00000490355.6:c.3541C>A	ENSP00000418003.3:p.Leu1181Ile
ENST00000491806.6:c.3484C>A	ENSP00000419086.3:p.Leu1162Ile
ENST00000628528.2:c.3469C>A	ENSP00000486374.1:p.Leu1157Ile
ENST00000630792.2:c.3439C>A	ENSP00000486486.1:p.Leu1147Ile
ENST00000631073.2:c.3547C>A	ENSP00000486130.1:p.Leu1183Ile
NM_001272003.1:c.3469C>A	NP_001258932.1:p.Leu1157Ile
NM_020822.2:c.3541C>A	NP_065873.2:p.Leu1181Ile
XM_011518877.1:c.3739C>A	XP_011517179.1:p.Leu1247Ile
XM_011518878.1:c.3685C>A	XP_011517180.1:p.Leu1229Ile
XM_011518879.1:c.3676C>A	XP_011517181.1:p.Leu1226Ile
XM_011518880.1:c.3505C>A	XP_011517182.1:p.Leu1169Ile
XM_011518881.1:c.3094C>A	XP_011517183.1:p.Leu1032Ile
XM_011518877.3:c.3739C>A	XP_011517179.1:p.Leu1247Ile
XM_011518878.3:c.3685C>A	XP_011517180.1:p.Leu1229Ile
XM_011518879.3:c.3676C>A	XP_011517181.1:p.Leu1226Ile
XM_011518881.3:c.3094C>A	XP_011517183.1:p.Leu1032Ile
XM_017014931.1:c.3538C>A	XP_016870420.1:p.Leu1180Ile
XM_017014932.1:c.3361C>A	XP_016870421.1:p.Leu1121Ile
XM_017014933.1:c.3094C>A	XP_016870422.1:p.Leu1032Ile
XM_024447617.1:c.3094C>A	XP_024303385.1:p.Leu1032Ile
XM_024447618.1:c.3094C>A	XP_024303386.1:p.Leu1032Ile
NM_020822.3:c.3541C>A MANE Select	NP_065873.2:p.Leu1181Ile
NM_001272003.2:c.3469C>A	NP_001258932.1:p.Leu1157Ile