Canonical Allele Identifier: CA467698752

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775352-C-T
• MyVariant Identifiers: chr9:g.138667198C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2286C>T MANE Select	ENSP00000360822.2:p.Ser762=
ENST00000674572.1:c.2127C>T	ENSP00000501742.1:p.Ser709=
ENST00000675090.1:c.2034C>T	ENSP00000501833.1:p.Ser678=
ENST00000675399.1:c.2034C>T	ENSP00000501932.1:p.Ser678=
ENST00000676421.1:c.2043C>T	ENSP00000502322.1:p.Ser681=
ENST00000263604.5:c.2187C>T	ENSP00000263604.4:p.Ser729=
ENST00000371757.6:c.2286C>T	ENSP00000360822.2:p.Ser762=
ENST00000460750.5:c.*1896C>T	ENSP00000418777.1:n.*1896C>T
ENST00000486577.6:c.2169C>T	ENSP00000417578.3:p.Ser723=
ENST00000487664.5:c.2286C>T	ENSP00000417851.2:p.Ser762=
ENST00000488444.6:c.2229C>T	ENSP00000419007.3:p.Ser743=
ENST00000490355.6:c.2223C>T	ENSP00000418003.3:p.Ser741=
ENST00000490363.3:n.2105C>T
ENST00000491806.6:c.2229C>T	ENSP00000419086.3:p.Ser743=
ENST00000628528.2:c.2151C>T	ENSP00000486374.1:p.Ser717=
ENST00000630792.2:c.2121C>T	ENSP00000486486.1:p.Ser707=
ENST00000631073.2:c.2229C>T	ENSP00000486130.1:p.Ser743=
ENST00000631193.1:c.135C>T	ENSP00000486830.1:p.Ser45=
NM_001272003.1:c.2151C>T	NP_001258932.1:p.Ser717=
NM_020822.2:c.2286C>T	NP_065873.2:p.Ser762=
XM_011518877.1:c.2421C>T	XP_011517179.1:p.Ser807=
XM_011518878.1:c.2430C>T	XP_011517180.1:p.Ser810=
XM_011518879.1:c.2421C>T	XP_011517181.1:p.Ser807=
XM_011518880.1:c.2187C>T	XP_011517182.1:p.Ser729=
XM_011518881.1:c.1776C>T	XP_011517183.1:p.Ser592=
XM_011518877.3:c.2421C>T	XP_011517179.1:p.Ser807=
XM_011518878.3:c.2430C>T	XP_011517180.1:p.Ser810=
XM_011518879.3:c.2421C>T	XP_011517181.1:p.Ser807=
XM_011518881.3:c.1776C>T	XP_011517183.1:p.Ser592=
XM_017014931.1:c.2220C>T	XP_016870420.1:p.Ser740=
XM_017014932.1:c.2043C>T	XP_016870421.1:p.Ser681=
XM_017014933.1:c.1776C>T	XP_016870422.1:p.Ser592=
XM_024447617.1:c.1776C>T	XP_024303385.1:p.Ser592=
XM_024447618.1:c.1776C>T	XP_024303386.1:p.Ser592=
NM_020822.3:c.2286C>T MANE Select	NP_065873.2:p.Ser762=
NM_001272003.2:c.2151C>T	NP_001258932.1:p.Ser717=