Canonical Allele Identifier: CA375501707

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135765730-C-T
• MyVariant Identifiers: chr9:g.138657576C>T (hg19) ; chr9:g.135765730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765730C>T , CM000671.2:g.135765730C>T	GRCh38
NC_000009.11:g.138657576C>T , CM000671.1:g.138657576C>T	GRCh37
NC_000009.10:g.137797397C>T	NCBI36
NG_033070.1:g.68546C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1307C>T MANE Select	ENSP00000360822.2:p.Ala436Val
ENST00000636995.1:n.34C>T
ENST00000637798.1:n.46C>T
ENST00000674572.1:c.1148C>T	ENSP00000501742.1:p.Ala383Val
ENST00000675090.1:c.1055C>T	ENSP00000501833.1:p.Ala352Val
ENST00000675399.1:c.1055C>T	ENSP00000501932.1:p.Ala352Val
ENST00000676421.1:c.1064C>T	ENSP00000502322.1:p.Ala355Val
ENST00000263604.5:c.1208C>T	ENSP00000263604.4:p.Ala403Val
ENST00000371757.6:c.1307C>T	ENSP00000360822.2:p.Ala436Val
ENST00000460750.5:c.*917C>T	ENSP00000418777.1:n.*917C>T
ENST00000486577.6:c.1190C>T	ENSP00000417578.3:p.Ala397Val
ENST00000487664.5:c.1307C>T	ENSP00000417851.2:p.Ala436Val
ENST00000488444.6:c.1250C>T	ENSP00000419007.3:p.Ala417Val
ENST00000490355.6:c.1250C>T	ENSP00000418003.3:p.Ala417Val
ENST00000490363.3:n.1126C>T
ENST00000491806.6:c.1250C>T	ENSP00000419086.3:p.Ala417Val
ENST00000628528.2:c.1172C>T	ENSP00000486374.1:p.Ala391Val
ENST00000630792.2:c.1148C>T	ENSP00000486486.1:p.Ala383Val
ENST00000631073.2:c.1250C>T	ENSP00000486130.1:p.Ala417Val
NM_001272003.1:c.1172C>T	NP_001258932.1:p.Ala391Val
NM_020822.2:c.1307C>T	NP_065873.2:p.Ala436Val
XM_011518877.1:c.1442C>T	XP_011517179.1:p.Ala481Val
XM_011518878.1:c.1451C>T	XP_011517180.1:p.Ala484Val
XM_011518879.1:c.1442C>T	XP_011517181.1:p.Ala481Val
XM_011518880.1:c.1208C>T	XP_011517182.1:p.Ala403Val
XM_011518881.1:c.797C>T	XP_011517183.1:p.Ala266Val
XM_011518877.3:c.1442C>T	XP_011517179.1:p.Ala481Val
XM_011518878.3:c.1451C>T	XP_011517180.1:p.Ala484Val
XM_011518879.3:c.1442C>T	XP_011517181.1:p.Ala481Val
XM_011518881.3:c.797C>T	XP_011517183.1:p.Ala266Val
XM_017014931.1:c.1241C>T	XP_016870420.1:p.Ala414Val
XM_017014932.1:c.1064C>T	XP_016870421.1:p.Ala355Val
XM_017014933.1:c.797C>T	XP_016870422.1:p.Ala266Val
XM_024447617.1:c.797C>T	XP_024303385.1:p.Ala266Val
XM_024447618.1:c.797C>T	XP_024303386.1:p.Ala266Val
NM_020822.3:c.1307C>T MANE Select	NP_065873.2:p.Ala436Val
NM_001272003.2:c.1172C>T	NP_001258932.1:p.Ala391Val