Canonical Allele Identifier: CA375494788

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641988G>T (hg19) ; chr9:g.135750142G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750142G>T , CM000671.2:g.135750142G>T	GRCh38
NC_000009.11:g.138641988G>T , CM000671.1:g.138641988G>T	GRCh37
NC_000009.10:g.137781809G>T	NCBI36
NG_033070.1:g.52958G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.299G>T MANE Select	ENSP00000360822.2:p.Arg100Leu
ENST00000637018.1:n.104G>T
ENST00000638123.1:n.34G>T
ENST00000674572.1:c.140G>T	ENSP00000501742.1:p.Arg47Leu
ENST00000675090.1:c.47G>T	ENSP00000501833.1:p.Arg16Leu
ENST00000675399.1:c.47G>T	ENSP00000501932.1:p.Arg16Leu
ENST00000676421.1:c.47G>T	ENSP00000502322.1:p.Arg16Leu
ENST00000263604.5:c.200G>T	ENSP00000263604.4:p.Arg67Leu
ENST00000371757.6:c.299G>T	ENSP00000360822.2:p.Arg100Leu
ENST00000460750.5:c.299G>T	ENSP00000418777.1:p.Arg100Leu
ENST00000473941.5:c.140G>T	ENSP00000420764.1:p.Arg47Leu
ENST00000486577.6:c.182G>T	ENSP00000417578.3:p.Arg61Leu
ENST00000487664.5:c.299G>T	ENSP00000417851.2:p.Arg100Leu
ENST00000488444.6:c.242G>T	ENSP00000419007.3:p.Arg81Leu
ENST00000490355.6:c.242G>T	ENSP00000418003.3:p.Arg81Leu
ENST00000491806.6:c.242G>T	ENSP00000419086.3:p.Arg81Leu
ENST00000628528.2:c.155G>T	ENSP00000486374.1:p.Arg52Leu
ENST00000630792.2:c.140G>T	ENSP00000486486.1:p.Arg47Leu
ENST00000631073.2:c.242G>T	ENSP00000486130.1:p.Arg81Leu
NM_001272003.1:c.155G>T	NP_001258932.1:p.Arg52Leu
NM_020822.2:c.299G>T	NP_065873.2:p.Arg100Leu
XM_011518877.1:c.434G>T	XP_011517179.1:p.Arg145Leu
XM_011518878.1:c.434G>T	XP_011517180.1:p.Arg145Leu
XM_011518879.1:c.434G>T	XP_011517181.1:p.Arg145Leu
XM_011518880.1:c.200G>T	XP_011517182.1:p.Arg67Leu
XM_011518877.3:c.434G>T	XP_011517179.1:p.Arg145Leu
XM_011518878.3:c.434G>T	XP_011517180.1:p.Arg145Leu
XM_011518879.3:c.434G>T	XP_011517181.1:p.Arg145Leu
XM_017014931.1:c.324G>T	XP_016870420.1:p.Ala108=
XM_017014932.1:c.47G>T	XP_016870421.1:p.Arg16Leu
XM_017014933.1:c.-121G>T	XP_016870422.1:n.-121G>T
XM_024447617.1:c.-221G>T	XP_024303385.1:n.-221G>T
XM_024447618.1:c.-221G>T	XP_024303386.1:n.-221G>T
NM_020822.3:c.299G>T MANE Select	NP_065873.2:p.Arg100Leu
NM_001272003.2:c.155G>T	NP_001258932.1:p.Arg52Leu