Canonical Allele Identifier: CA375490708

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138677170A>T (hg19) ; chr9:g.135785324A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135785324A>T , CM000671.2:g.135785324A>T	GRCh38
NC_000009.11:g.138677170A>T , CM000671.1:g.138677170A>T	GRCh37
NC_000009.10:g.137816991A>T	NCBI36
NG_033070.1:g.88140A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3171A>T MANE Select	ENSP00000360822.2:p.Arg1057Ser
ENST00000674572.1:c.3012A>T	ENSP00000501742.1:p.Arg1004Ser
ENST00000675090.1:c.2919A>T	ENSP00000501833.1:p.Arg973Ser
ENST00000675399.1:c.2919A>T	ENSP00000501932.1:p.Arg973Ser
ENST00000676421.1:c.2928A>T	ENSP00000502322.1:p.Arg976Ser
ENST00000263604.5:c.3072A>T	ENSP00000263604.4:p.Arg1024Ser
ENST00000371757.6:c.3171A>T	ENSP00000360822.2:p.Arg1057Ser
ENST00000460750.5:c.*2781A>T	ENSP00000418777.1:n.*2781A>T
ENST00000486577.6:c.3054A>T	ENSP00000417578.3:p.Arg1018Ser
ENST00000487664.5:c.3171A>T	ENSP00000417851.2:p.Arg1057Ser
ENST00000488444.6:c.3099+435A>T	ENSP00000419007.3:n.3099+435A>T
ENST00000490355.6:c.3108A>T	ENSP00000418003.3:p.Arg1036Ser
ENST00000490363.3:n.2990A>T
ENST00000491806.6:c.3114A>T	ENSP00000419086.3:p.Arg1038Ser
ENST00000628528.2:c.3036A>T	ENSP00000486374.1:p.Arg1012Ser
ENST00000630792.2:c.3006A>T	ENSP00000486486.1:p.Arg1002Ser
ENST00000631073.2:c.3114A>T	ENSP00000486130.1:p.Arg1038Ser
NM_001272003.1:c.3036A>T	NP_001258932.1:p.Arg1012Ser
NM_020822.2:c.3171A>T	NP_065873.2:p.Arg1057Ser
XM_011518877.1:c.3306A>T	XP_011517179.1:p.Arg1102Ser
XM_011518878.1:c.3315A>T	XP_011517180.1:p.Arg1105Ser
XM_011518879.1:c.3306A>T	XP_011517181.1:p.Arg1102Ser
XM_011518880.1:c.3072A>T	XP_011517182.1:p.Arg1024Ser
XM_011518881.1:c.2661A>T	XP_011517183.1:p.Arg887Ser
XM_011518877.3:c.3306A>T	XP_011517179.1:p.Arg1102Ser
XM_011518878.3:c.3315A>T	XP_011517180.1:p.Arg1105Ser
XM_011518879.3:c.3306A>T	XP_011517181.1:p.Arg1102Ser
XM_011518881.3:c.2661A>T	XP_011517183.1:p.Arg887Ser
XM_017014931.1:c.3105A>T	XP_016870420.1:p.Arg1035Ser
XM_017014932.1:c.2928A>T	XP_016870421.1:p.Arg976Ser
XM_017014933.1:c.2661A>T	XP_016870422.1:p.Arg887Ser
XM_024447617.1:c.2661A>T	XP_024303385.1:p.Arg887Ser
XM_024447618.1:c.2661A>T	XP_024303386.1:p.Arg887Ser
NM_020822.3:c.3171A>T MANE Select	NP_065873.2:p.Arg1057Ser
NM_001272003.2:c.3036A>T	NP_001258932.1:p.Arg1012Ser