Canonical Allele Identifier: CA467685673

Gene: KCNT1

Linked Data

• COSMIC: COSM6473013 ; COSM6473014
• MyVariant Identifiers: chr9:g.138642007C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750161C>A , CM000671.2:g.135750161C>A	GRCh38
NC_000009.11:g.138642007C>A , CM000671.1:g.138642007C>A	GRCh37
NC_000009.10:g.137781828C>A	NCBI36
NG_033070.1:g.52977C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.318C>A MANE Select	ENSP00000360822.2:p.Ile106=
ENST00000637018.1:n.123C>A
ENST00000638123.1:n.53C>A
ENST00000674572.1:c.159C>A	ENSP00000501742.1:p.Ile53=
ENST00000675090.1:c.66C>A	ENSP00000501833.1:p.Ile22=
ENST00000675399.1:c.66C>A	ENSP00000501932.1:p.Ile22=
ENST00000676421.1:c.66C>A	ENSP00000502322.1:p.Ile22=
ENST00000263604.5:c.219C>A	ENSP00000263604.4:p.Ile73=
ENST00000371757.6:c.318C>A	ENSP00000360822.2:p.Ile106=
ENST00000460750.5:c.318C>A	ENSP00000418777.1:p.Ile106=
ENST00000473941.5:c.159C>A	ENSP00000420764.1:p.Ile53=
ENST00000486577.6:c.201C>A	ENSP00000417578.3:p.Ile67=
ENST00000487664.5:c.318C>A	ENSP00000417851.2:p.Ile106=
ENST00000488444.6:c.261C>A	ENSP00000419007.3:p.Ile87=
ENST00000490355.6:c.261C>A	ENSP00000418003.3:p.Ile87=
ENST00000491806.6:c.261C>A	ENSP00000419086.3:p.Ile87=
ENST00000628528.2:c.174C>A	ENSP00000486374.1:p.Ile58=
ENST00000630792.2:c.159C>A	ENSP00000486486.1:p.Ile53=
ENST00000631073.2:c.261C>A	ENSP00000486130.1:p.Ile87=
NM_001272003.1:c.174C>A	NP_001258932.1:p.Ile58=
NM_020822.2:c.318C>A	NP_065873.2:p.Ile106=
XM_011518877.1:c.453C>A	XP_011517179.1:p.Ile151=
XM_011518878.1:c.453C>A	XP_011517180.1:p.Ile151=
XM_011518879.1:c.453C>A	XP_011517181.1:p.Ile151=
XM_011518880.1:c.219C>A	XP_011517182.1:p.Ile73=
XM_011518877.3:c.453C>A	XP_011517179.1:p.Ile151=
XM_011518878.3:c.453C>A	XP_011517180.1:p.Ile151=
XM_011518879.3:c.453C>A	XP_011517181.1:p.Ile151=
XM_017014931.1:c.343C>A	XP_016870420.1:p.Gln115Lys
XM_017014932.1:c.66C>A	XP_016870421.1:p.Ile22=
XM_017014933.1:c.-102C>A	XP_016870422.1:n.-102C>A
XM_024447617.1:c.-202C>A	XP_024303385.1:n.-202C>A
XM_024447618.1:c.-202C>A	XP_024303386.1:n.-202C>A
NM_020822.3:c.318C>A MANE Select	NP_065873.2:p.Ile106=
NM_001272003.2:c.174C>A	NP_001258932.1:p.Ile58=