Canonical Allele Identifier: CA201449351

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1468721
• ClinVar RCV Id: RCV001969137
• dbSNP Id: rs917179079
• MyVariant Identifiers: chr9:g.138641956G>A (hg19) ; chr9:g.135750110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750110G>A , CM000671.2:g.135750110G>A	GRCh38
NC_000009.11:g.138641956G>A , CM000671.1:g.138641956G>A	GRCh37
NC_000009.10:g.137781777G>A	NCBI36
NG_033070.1:g.52926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.267G>A MANE Select	ENSP00000360822.2:p.Glu89=
ENST00000637018.1:n.72G>A
ENST00000638123.1:n.2G>A
ENST00000674572.1:c.108G>A	ENSP00000501742.1:p.Glu36=
ENST00000675090.1:c.15G>A	ENSP00000501833.1:p.Glu5=
ENST00000675399.1:c.15G>A	ENSP00000501932.1:p.Glu5=
ENST00000676421.1:c.15G>A	ENSP00000502322.1:p.Glu5=
ENST00000263604.5:c.168G>A	ENSP00000263604.4:p.Glu56=
ENST00000371757.6:c.267G>A	ENSP00000360822.2:p.Glu89=
ENST00000460750.5:c.267G>A	ENSP00000418777.1:p.Glu89=
ENST00000473941.5:c.108G>A	ENSP00000420764.1:p.Glu36=
ENST00000486577.6:c.150G>A	ENSP00000417578.3:p.Glu50=
ENST00000487664.5:c.267G>A	ENSP00000417851.2:p.Glu89=
ENST00000488444.6:c.210G>A	ENSP00000419007.3:p.Glu70=
ENST00000490355.6:c.210G>A	ENSP00000418003.3:p.Glu70=
ENST00000491806.6:c.210G>A	ENSP00000419086.3:p.Glu70=
ENST00000628528.2:c.123G>A	ENSP00000486374.1:p.Glu41=
ENST00000630792.2:c.108G>A	ENSP00000486486.1:p.Glu36=
ENST00000631073.2:c.210G>A	ENSP00000486130.1:p.Glu70=
NM_001272003.1:c.123G>A	NP_001258932.1:p.Glu41=
NM_020822.2:c.267G>A	NP_065873.2:p.Glu89=
XM_011518877.1:c.402G>A	XP_011517179.1:p.Glu134=
XM_011518878.1:c.402G>A	XP_011517180.1:p.Glu134=
XM_011518879.1:c.402G>A	XP_011517181.1:p.Glu134=
XM_011518880.1:c.168G>A	XP_011517182.1:p.Glu56=
XM_011518877.3:c.402G>A	XP_011517179.1:p.Glu134=
XM_011518878.3:c.402G>A	XP_011517180.1:p.Glu134=
XM_011518879.3:c.402G>A	XP_011517181.1:p.Glu134=
XM_017014931.1:c.292G>A	XP_016870420.1:p.Val98Ile
XM_017014932.1:c.15G>A	XP_016870421.1:p.Glu5=
XM_017014933.1:c.-153G>A	XP_016870422.1:n.-153G>A
XM_024447617.1:c.-253G>A	XP_024303385.1:n.-253G>A
XM_024447618.1:c.-253G>A	XP_024303386.1:n.-253G>A
NM_020822.3:c.267G>A MANE Select	NP_065873.2:p.Glu89=
NM_001272003.2:c.123G>A	NP_001258932.1:p.Glu41=