Canonical Allele Identifier: CA375500011

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138656931A>C (hg19) ; chr9:g.135765085A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765085A>C , CM000671.2:g.135765085A>C	GRCh38
NC_000009.11:g.138656931A>C , CM000671.1:g.138656931A>C	GRCh37
NC_000009.10:g.137796752A>C	NCBI36
NG_033070.1:g.67901A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1090A>C MANE Select	ENSP00000360822.2:p.Ser364Arg
ENST00000674572.1:c.931A>C	ENSP00000501742.1:p.Ser311Arg
ENST00000675090.1:c.838A>C	ENSP00000501833.1:p.Ser280Arg
ENST00000675399.1:c.838A>C	ENSP00000501932.1:p.Ser280Arg
ENST00000676421.1:c.847A>C	ENSP00000502322.1:p.Ser283Arg
ENST00000263604.5:c.991A>C	ENSP00000263604.4:p.Ser331Arg
ENST00000371757.6:c.1090A>C	ENSP00000360822.2:p.Ser364Arg
ENST00000460750.5:c.*700A>C	ENSP00000418777.1:n.*700A>C
ENST00000486577.6:c.973A>C	ENSP00000417578.3:p.Ser325Arg
ENST00000487664.5:c.1090A>C	ENSP00000417851.2:p.Ser364Arg
ENST00000488444.6:c.1033A>C	ENSP00000419007.3:p.Ser345Arg
ENST00000490355.6:c.1033A>C	ENSP00000418003.3:p.Ser345Arg
ENST00000490363.3:n.909A>C
ENST00000491806.6:c.1033A>C	ENSP00000419086.3:p.Ser345Arg
ENST00000628528.2:c.955A>C	ENSP00000486374.1:p.Ser319Arg
ENST00000630792.2:c.931A>C	ENSP00000486486.1:p.Ser311Arg
ENST00000631073.2:c.1033A>C	ENSP00000486130.1:p.Ser345Arg
NM_001272003.1:c.955A>C	NP_001258932.1:p.Ser319Arg
NM_020822.2:c.1090A>C	NP_065873.2:p.Ser364Arg
XM_011518877.1:c.1225A>C	XP_011517179.1:p.Ser409Arg
XM_011518878.1:c.1234A>C	XP_011517180.1:p.Ser412Arg
XM_011518879.1:c.1225A>C	XP_011517181.1:p.Ser409Arg
XM_011518880.1:c.991A>C	XP_011517182.1:p.Ser331Arg
XM_011518881.1:c.580A>C	XP_011517183.1:p.Ser194Arg
XM_011518877.3:c.1225A>C	XP_011517179.1:p.Ser409Arg
XM_011518878.3:c.1234A>C	XP_011517180.1:p.Ser412Arg
XM_011518879.3:c.1225A>C	XP_011517181.1:p.Ser409Arg
XM_011518881.3:c.580A>C	XP_011517183.1:p.Ser194Arg
XM_017014931.1:c.1024A>C	XP_016870420.1:p.Ser342Arg
XM_017014932.1:c.847A>C	XP_016870421.1:p.Ser283Arg
XM_017014933.1:c.580A>C	XP_016870422.1:p.Ser194Arg
XM_024447617.1:c.580A>C	XP_024303385.1:p.Ser194Arg
XM_024447618.1:c.580A>C	XP_024303386.1:p.Ser194Arg
NM_020822.3:c.1090A>C MANE Select	NP_065873.2:p.Ser364Arg
NM_001272003.2:c.955A>C	NP_001258932.1:p.Ser319Arg