Canonical Allele Identifier: CA375501692

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657575G>T (hg19) ; chr9:g.135765729G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765729G>T , CM000671.2:g.135765729G>T	GRCh38
NC_000009.11:g.138657575G>T , CM000671.1:g.138657575G>T	GRCh37
NC_000009.10:g.137797396G>T	NCBI36
NG_033070.1:g.68545G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1306G>T MANE Select	ENSP00000360822.2:p.Ala436Ser
ENST00000636995.1:n.33G>T
ENST00000637798.1:n.45G>T
ENST00000674572.1:c.1147G>T	ENSP00000501742.1:p.Ala383Ser
ENST00000675090.1:c.1054G>T	ENSP00000501833.1:p.Ala352Ser
ENST00000675399.1:c.1054G>T	ENSP00000501932.1:p.Ala352Ser
ENST00000676421.1:c.1063G>T	ENSP00000502322.1:p.Ala355Ser
ENST00000263604.5:c.1207G>T	ENSP00000263604.4:p.Ala403Ser
ENST00000371757.6:c.1306G>T	ENSP00000360822.2:p.Ala436Ser
ENST00000460750.5:c.*916G>T	ENSP00000418777.1:n.*916G>T
ENST00000486577.6:c.1189G>T	ENSP00000417578.3:p.Ala397Ser
ENST00000487664.5:c.1306G>T	ENSP00000417851.2:p.Ala436Ser
ENST00000488444.6:c.1249G>T	ENSP00000419007.3:p.Ala417Ser
ENST00000490355.6:c.1249G>T	ENSP00000418003.3:p.Ala417Ser
ENST00000490363.3:n.1125G>T
ENST00000491806.6:c.1249G>T	ENSP00000419086.3:p.Ala417Ser
ENST00000628528.2:c.1171G>T	ENSP00000486374.1:p.Ala391Ser
ENST00000630792.2:c.1147G>T	ENSP00000486486.1:p.Ala383Ser
ENST00000631073.2:c.1249G>T	ENSP00000486130.1:p.Ala417Ser
NM_001272003.1:c.1171G>T	NP_001258932.1:p.Ala391Ser
NM_020822.2:c.1306G>T	NP_065873.2:p.Ala436Ser
XM_011518877.1:c.1441G>T	XP_011517179.1:p.Ala481Ser
XM_011518878.1:c.1450G>T	XP_011517180.1:p.Ala484Ser
XM_011518879.1:c.1441G>T	XP_011517181.1:p.Ala481Ser
XM_011518880.1:c.1207G>T	XP_011517182.1:p.Ala403Ser
XM_011518881.1:c.796G>T	XP_011517183.1:p.Ala266Ser
XM_011518877.3:c.1441G>T	XP_011517179.1:p.Ala481Ser
XM_011518878.3:c.1450G>T	XP_011517180.1:p.Ala484Ser
XM_011518879.3:c.1441G>T	XP_011517181.1:p.Ala481Ser
XM_011518881.3:c.796G>T	XP_011517183.1:p.Ala266Ser
XM_017014931.1:c.1240G>T	XP_016870420.1:p.Ala414Ser
XM_017014932.1:c.1063G>T	XP_016870421.1:p.Ala355Ser
XM_017014933.1:c.796G>T	XP_016870422.1:p.Ala266Ser
XM_024447617.1:c.796G>T	XP_024303385.1:p.Ala266Ser
XM_024447618.1:c.796G>T	XP_024303386.1:p.Ala266Ser
NM_020822.3:c.1306G>T MANE Select	NP_065873.2:p.Ala436Ser
NM_001272003.2:c.1171G>T	NP_001258932.1:p.Ala391Ser