Canonical Allele Identifier: CA375500028

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1718309
• ClinVar RCV Id: RCV002299724
• MyVariant Identifiers: chr9:g.138656934C>A (hg19) ; chr9:g.135765088C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765088C>A , CM000671.2:g.135765088C>A	GRCh38
NC_000009.11:g.138656934C>A , CM000671.1:g.138656934C>A	GRCh37
NC_000009.10:g.137796755C>A	NCBI36
NG_033070.1:g.67904C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1093C>A MANE Select	ENSP00000360822.2:p.Arg365Ser
ENST00000674572.1:c.934C>A	ENSP00000501742.1:p.Arg312Ser
ENST00000675090.1:c.841C>A	ENSP00000501833.1:p.Arg281Ser
ENST00000675399.1:c.841C>A	ENSP00000501932.1:p.Arg281Ser
ENST00000676421.1:c.850C>A	ENSP00000502322.1:p.Arg284Ser
ENST00000263604.5:c.994C>A	ENSP00000263604.4:p.Arg332Ser
ENST00000371757.6:c.1093C>A	ENSP00000360822.2:p.Arg365Ser
ENST00000460750.5:c.*703C>A	ENSP00000418777.1:n.*703C>A
ENST00000486577.6:c.976C>A	ENSP00000417578.3:p.Arg326Ser
ENST00000487664.5:c.1093C>A	ENSP00000417851.2:p.Arg365Ser
ENST00000488444.6:c.1036C>A	ENSP00000419007.3:p.Arg346Ser
ENST00000490355.6:c.1036C>A	ENSP00000418003.3:p.Arg346Ser
ENST00000490363.3:n.912C>A
ENST00000491806.6:c.1036C>A	ENSP00000419086.3:p.Arg346Ser
ENST00000628528.2:c.958C>A	ENSP00000486374.1:p.Arg320Ser
ENST00000630792.2:c.934C>A	ENSP00000486486.1:p.Arg312Ser
ENST00000631073.2:c.1036C>A	ENSP00000486130.1:p.Arg346Ser
NM_001272003.1:c.958C>A	NP_001258932.1:p.Arg320Ser
NM_020822.2:c.1093C>A	NP_065873.2:p.Arg365Ser
XM_011518877.1:c.1228C>A	XP_011517179.1:p.Arg410Ser
XM_011518878.1:c.1237C>A	XP_011517180.1:p.Arg413Ser
XM_011518879.1:c.1228C>A	XP_011517181.1:p.Arg410Ser
XM_011518880.1:c.994C>A	XP_011517182.1:p.Arg332Ser
XM_011518881.1:c.583C>A	XP_011517183.1:p.Arg195Ser
XM_011518877.3:c.1228C>A	XP_011517179.1:p.Arg410Ser
XM_011518878.3:c.1237C>A	XP_011517180.1:p.Arg413Ser
XM_011518879.3:c.1228C>A	XP_011517181.1:p.Arg410Ser
XM_011518881.3:c.583C>A	XP_011517183.1:p.Arg195Ser
XM_017014931.1:c.1027C>A	XP_016870420.1:p.Arg343Ser
XM_017014932.1:c.850C>A	XP_016870421.1:p.Arg284Ser
XM_017014933.1:c.583C>A	XP_016870422.1:p.Arg195Ser
XM_024447617.1:c.583C>A	XP_024303385.1:p.Arg195Ser
XM_024447618.1:c.583C>A	XP_024303386.1:p.Arg195Ser
NM_020822.3:c.1093C>A MANE Select	NP_065873.2:p.Arg365Ser
NM_001272003.2:c.958C>A	NP_001258932.1:p.Arg320Ser