Canonical Allele Identifier: CA1883843288

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750128C= , CM000671.2:g.135750128C=	GRCh38
NC_000009.11:g.138641974C= , CM000671.1:g.138641974C=	GRCh37
NC_000009.10:g.137781795C=	NCBI36
NG_033070.1:g.52944C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.285C= MANE Select	ENSP00000360822.2:p.Asn95=
ENST00000637018.1:n.90C=
ENST00000638123.1:n.20C=
ENST00000674572.1:c.126C=	ENSP00000501742.1:p.Asn42=
ENST00000675090.1:c.33C=	ENSP00000501833.1:p.Asn11=
ENST00000675399.1:c.33C=	ENSP00000501932.1:p.Asn11=
ENST00000676421.1:c.33C=	ENSP00000502322.1:p.Asn11=
ENST00000263604.5:c.186C=	ENSP00000263604.4:p.Asn62=
ENST00000371757.6:c.285C=	ENSP00000360822.2:p.Asn95=
ENST00000460750.5:c.285C=	ENSP00000418777.1:p.Asn95=
ENST00000473941.5:c.126C=	ENSP00000420764.1:p.Asn42=
ENST00000486577.6:c.168C=	ENSP00000417578.3:p.Asn56=
ENST00000487664.5:c.285C=	ENSP00000417851.2:p.Asn95=
ENST00000488444.6:c.228C=	ENSP00000419007.3:p.Asn76=
ENST00000490355.6:c.228C=	ENSP00000418003.3:p.Asn76=
ENST00000491806.6:c.228C=	ENSP00000419086.3:p.Asn76=
ENST00000628528.2:c.141C=	ENSP00000486374.1:p.Asn47=
ENST00000630792.2:c.126C=	ENSP00000486486.1:p.Asn42=
ENST00000631073.2:c.228C=	ENSP00000486130.1:p.Asn76=
NM_001272003.1:c.141C=	NP_001258932.1:p.Asn47=
NM_020822.2:c.285C=	NP_065873.2:p.Asn95=
XM_011518877.1:c.420C=	XP_011517179.1:p.Asn140=
XM_011518878.1:c.420C=	XP_011517180.1:p.Asn140=
XM_011518879.1:c.420C=	XP_011517181.1:p.Asn140=
XM_011518880.1:c.186C=	XP_011517182.1:p.Asn62=
XM_011518877.3:c.420C=	XP_011517179.1:p.Asn140=
XM_011518878.3:c.420C=	XP_011517180.1:p.Asn140=
XM_011518879.3:c.420C=	XP_011517181.1:p.Asn140=
XM_017014931.1:c.310C=	XP_016870420.1:p.His104=
XM_017014932.1:c.33C=	XP_016870421.1:p.Asn11=
XM_017014933.1:c.-135C=	XP_016870422.1:n.-135C=
XM_024447617.1:c.-235C=	XP_024303385.1:n.-235C=
XM_024447618.1:c.-235C=	XP_024303386.1:n.-235C=
NM_020822.3:c.285C= MANE Select	NP_065873.2:p.Asn95=
NM_001272003.2:c.141C=	NP_001258932.1:p.Asn47=