Canonical Allele Identifier: CA375512235

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667196A>C (hg19) ; chr9:g.135775350A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775350A>C , CM000671.2:g.135775350A>C	GRCh38
NC_000009.11:g.138667196A>C , CM000671.1:g.138667196A>C	GRCh37
NC_000009.10:g.137807017A>C	NCBI36
NG_033070.1:g.78166A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2284A>C MANE Select	ENSP00000360822.2:p.Ser762Arg
ENST00000674572.1:c.2125A>C	ENSP00000501742.1:p.Ser709Arg
ENST00000675090.1:c.2032A>C	ENSP00000501833.1:p.Ser678Arg
ENST00000675399.1:c.2032A>C	ENSP00000501932.1:p.Ser678Arg
ENST00000676421.1:c.2041A>C	ENSP00000502322.1:p.Ser681Arg
ENST00000263604.5:c.2185A>C	ENSP00000263604.4:p.Ser729Arg
ENST00000371757.6:c.2284A>C	ENSP00000360822.2:p.Ser762Arg
ENST00000460750.5:c.*1894A>C	ENSP00000418777.1:n.*1894A>C
ENST00000486577.6:c.2167A>C	ENSP00000417578.3:p.Ser723Arg
ENST00000487664.5:c.2284A>C	ENSP00000417851.2:p.Ser762Arg
ENST00000488444.6:c.2227A>C	ENSP00000419007.3:p.Ser743Arg
ENST00000490355.6:c.2221A>C	ENSP00000418003.3:p.Ser741Arg
ENST00000490363.3:n.2103A>C
ENST00000491806.6:c.2227A>C	ENSP00000419086.3:p.Ser743Arg
ENST00000628528.2:c.2149A>C	ENSP00000486374.1:p.Ser717Arg
ENST00000630792.2:c.2119A>C	ENSP00000486486.1:p.Ser707Arg
ENST00000631073.2:c.2227A>C	ENSP00000486130.1:p.Ser743Arg
ENST00000631193.1:c.133A>C	ENSP00000486830.1:p.Ser45Arg
NM_001272003.1:c.2149A>C	NP_001258932.1:p.Ser717Arg
NM_020822.2:c.2284A>C	NP_065873.2:p.Ser762Arg
XM_011518877.1:c.2419A>C	XP_011517179.1:p.Ser807Arg
XM_011518878.1:c.2428A>C	XP_011517180.1:p.Ser810Arg
XM_011518879.1:c.2419A>C	XP_011517181.1:p.Ser807Arg
XM_011518880.1:c.2185A>C	XP_011517182.1:p.Ser729Arg
XM_011518881.1:c.1774A>C	XP_011517183.1:p.Ser592Arg
XM_011518877.3:c.2419A>C	XP_011517179.1:p.Ser807Arg
XM_011518878.3:c.2428A>C	XP_011517180.1:p.Ser810Arg
XM_011518879.3:c.2419A>C	XP_011517181.1:p.Ser807Arg
XM_011518881.3:c.1774A>C	XP_011517183.1:p.Ser592Arg
XM_017014931.1:c.2218A>C	XP_016870420.1:p.Ser740Arg
XM_017014932.1:c.2041A>C	XP_016870421.1:p.Ser681Arg
XM_017014933.1:c.1774A>C	XP_016870422.1:p.Ser592Arg
XM_024447617.1:c.1774A>C	XP_024303385.1:p.Ser592Arg
XM_024447618.1:c.1774A>C	XP_024303386.1:p.Ser592Arg
NM_020822.3:c.2284A>C MANE Select	NP_065873.2:p.Ser762Arg
NM_001272003.2:c.2149A>C	NP_001258932.1:p.Ser717Arg