Canonical Allele Identifier: CA375512116

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667163A>T (hg19) ; chr9:g.135775317A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775317A>T , CM000671.2:g.135775317A>T	GRCh38
NC_000009.11:g.138667163A>T , CM000671.1:g.138667163A>T	GRCh37
NC_000009.10:g.137806984A>T	NCBI36
NG_033070.1:g.78133A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2251A>T MANE Select	ENSP00000360822.2:p.Lys751Ter
ENST00000674572.1:c.2092A>T	ENSP00000501742.1:p.Lys698Ter
ENST00000675090.1:c.1999A>T	ENSP00000501833.1:p.Lys667Ter
ENST00000675399.1:c.1999A>T	ENSP00000501932.1:p.Lys667Ter
ENST00000676421.1:c.2008A>T	ENSP00000502322.1:p.Lys670Ter
ENST00000263604.5:c.2152A>T	ENSP00000263604.4:p.Lys718Ter
ENST00000371757.6:c.2251A>T	ENSP00000360822.2:p.Lys751Ter
ENST00000460750.5:c.*1861A>T	ENSP00000418777.1:n.*1861A>T
ENST00000486577.6:c.2134A>T	ENSP00000417578.3:p.Lys712Ter
ENST00000487664.5:c.2251A>T	ENSP00000417851.2:p.Lys751Ter
ENST00000488444.6:c.2194A>T	ENSP00000419007.3:p.Lys732Ter
ENST00000490355.6:c.2188A>T	ENSP00000418003.3:p.Lys730Ter
ENST00000490363.3:n.2070A>T
ENST00000491806.6:c.2194A>T	ENSP00000419086.3:p.Lys732Ter
ENST00000628528.2:c.2116A>T	ENSP00000486374.1:p.Lys706Ter
ENST00000630792.2:c.2086A>T	ENSP00000486486.1:p.Lys696Ter
ENST00000631073.2:c.2194A>T	ENSP00000486130.1:p.Lys732Ter
ENST00000631193.1:c.100A>T	ENSP00000486830.1:p.Lys34Ter
NM_001272003.1:c.2116A>T	NP_001258932.1:p.Lys706Ter
NM_020822.2:c.2251A>T	NP_065873.2:p.Lys751Ter
XM_011518877.1:c.2386A>T	XP_011517179.1:p.Lys796Ter
XM_011518878.1:c.2395A>T	XP_011517180.1:p.Lys799Ter
XM_011518879.1:c.2386A>T	XP_011517181.1:p.Lys796Ter
XM_011518880.1:c.2152A>T	XP_011517182.1:p.Lys718Ter
XM_011518881.1:c.1741A>T	XP_011517183.1:p.Lys581Ter
XM_011518877.3:c.2386A>T	XP_011517179.1:p.Lys796Ter
XM_011518878.3:c.2395A>T	XP_011517180.1:p.Lys799Ter
XM_011518879.3:c.2386A>T	XP_011517181.1:p.Lys796Ter
XM_011518881.3:c.1741A>T	XP_011517183.1:p.Lys581Ter
XM_017014931.1:c.2185A>T	XP_016870420.1:p.Lys729Ter
XM_017014932.1:c.2008A>T	XP_016870421.1:p.Lys670Ter
XM_017014933.1:c.1741A>T	XP_016870422.1:p.Lys581Ter
XM_024447617.1:c.1741A>T	XP_024303385.1:p.Lys581Ter
XM_024447618.1:c.1741A>T	XP_024303386.1:p.Lys581Ter
NM_020822.3:c.2251A>T MANE Select	NP_065873.2:p.Lys751Ter
NM_001272003.2:c.2116A>T	NP_001258932.1:p.Lys706Ter