Canonical Allele Identifier: CA5327250

Gene: KCNT1

Linked Data

• dbSNP Id: rs202083898
• ExAC: 9:138667198 C / G
• gnomAD v2: 9-138667198-C-G
• gnomAD v4: 9-135775352-C-G
• MyVariant Identifiers: chr9:g.138667198C>G (hg19) ; chr9:g.135775352C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775352C>G , CM000671.2:g.135775352C>G	GRCh38
NC_000009.11:g.138667198C>G , CM000671.1:g.138667198C>G	GRCh37
NC_000009.10:g.137807019C>G	NCBI36
NG_033070.1:g.78168C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2286C>G MANE Select	ENSP00000360822.2:p.Ser762Arg
ENST00000674572.1:c.2127C>G	ENSP00000501742.1:p.Ser709Arg
ENST00000675090.1:c.2034C>G	ENSP00000501833.1:p.Ser678Arg
ENST00000675399.1:c.2034C>G	ENSP00000501932.1:p.Ser678Arg
ENST00000676421.1:c.2043C>G	ENSP00000502322.1:p.Ser681Arg
ENST00000263604.5:c.2187C>G	ENSP00000263604.4:p.Ser729Arg
ENST00000371757.6:c.2286C>G	ENSP00000360822.2:p.Ser762Arg
ENST00000460750.5:c.*1896C>G	ENSP00000418777.1:n.*1896C>G
ENST00000486577.6:c.2169C>G	ENSP00000417578.3:p.Ser723Arg
ENST00000487664.5:c.2286C>G	ENSP00000417851.2:p.Ser762Arg
ENST00000488444.6:c.2229C>G	ENSP00000419007.3:p.Ser743Arg
ENST00000490355.6:c.2223C>G	ENSP00000418003.3:p.Ser741Arg
ENST00000490363.3:n.2105C>G
ENST00000491806.6:c.2229C>G	ENSP00000419086.3:p.Ser743Arg
ENST00000628528.2:c.2151C>G	ENSP00000486374.1:p.Ser717Arg
ENST00000630792.2:c.2121C>G	ENSP00000486486.1:p.Ser707Arg
ENST00000631073.2:c.2229C>G	ENSP00000486130.1:p.Ser743Arg
ENST00000631193.1:c.135C>G	ENSP00000486830.1:p.Ser45Arg
NM_001272003.1:c.2151C>G	NP_001258932.1:p.Ser717Arg
NM_020822.2:c.2286C>G	NP_065873.2:p.Ser762Arg
XM_011518877.1:c.2421C>G	XP_011517179.1:p.Ser807Arg
XM_011518878.1:c.2430C>G	XP_011517180.1:p.Ser810Arg
XM_011518879.1:c.2421C>G	XP_011517181.1:p.Ser807Arg
XM_011518880.1:c.2187C>G	XP_011517182.1:p.Ser729Arg
XM_011518881.1:c.1776C>G	XP_011517183.1:p.Ser592Arg
XM_011518877.3:c.2421C>G	XP_011517179.1:p.Ser807Arg
XM_011518878.3:c.2430C>G	XP_011517180.1:p.Ser810Arg
XM_011518879.3:c.2421C>G	XP_011517181.1:p.Ser807Arg
XM_011518881.3:c.1776C>G	XP_011517183.1:p.Ser592Arg
XM_017014931.1:c.2220C>G	XP_016870420.1:p.Ser740Arg
XM_017014932.1:c.2043C>G	XP_016870421.1:p.Ser681Arg
XM_017014933.1:c.1776C>G	XP_016870422.1:p.Ser592Arg
XM_024447617.1:c.1776C>G	XP_024303385.1:p.Ser592Arg
XM_024447618.1:c.1776C>G	XP_024303386.1:p.Ser592Arg
NM_020822.3:c.2286C>G MANE Select	NP_065873.2:p.Ser762Arg
NM_001272003.2:c.2151C>G	NP_001258932.1:p.Ser717Arg