Canonical Allele Identifier: CA375493972

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138683693C>T (hg19) ; chr9:g.135791847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791847C>T , CM000671.2:g.135791847C>T	GRCh38
NC_000009.11:g.138683693C>T , CM000671.1:g.138683693C>T	GRCh37
NC_000009.10:g.137823514C>T	NCBI36
NG_033070.1:g.94663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3553C>T MANE Select	ENSP00000360822.2:p.Pro1185Ser
ENST00000674572.1:c.3457C>T	ENSP00000501742.1:p.Pro1153Ser
ENST00000675090.1:c.3301C>T	ENSP00000501833.1:p.Pro1101Ser
ENST00000675399.1:c.3364C>T	ENSP00000501932.1:p.Pro1122Ser
ENST00000676421.1:c.3373C>T	ENSP00000502322.1:p.Pro1125Ser
ENST00000263604.5:c.3517C>T	ENSP00000263604.4:p.Pro1173Ser
ENST00000371757.6:c.3553C>T	ENSP00000360822.2:p.Pro1185Ser
ENST00000460750.5:c.*3226C>T	ENSP00000418777.1:n.*3226C>T
ENST00000475008.1:n.2859C>T
ENST00000486577.6:c.3499C>T	ENSP00000417578.3:p.Pro1167Ser
ENST00000487664.5:c.3616C>T	ENSP00000417851.2:p.Pro1206Ser
ENST00000488444.6:c.3538C>T	ENSP00000419007.3:p.Pro1180Ser
ENST00000490355.6:c.3553C>T	ENSP00000418003.3:p.Pro1185Ser
ENST00000491806.6:c.3496C>T	ENSP00000419086.3:p.Pro1166Ser
ENST00000628528.2:c.3481C>T	ENSP00000486374.1:p.Pro1161Ser
ENST00000630792.2:c.3451C>T	ENSP00000486486.1:p.Pro1151Ser
ENST00000631073.2:c.3559C>T	ENSP00000486130.1:p.Pro1187Ser
NM_001272003.1:c.3481C>T	NP_001258932.1:p.Pro1161Ser
NM_020822.2:c.3553C>T	NP_065873.2:p.Pro1185Ser
XM_011518877.1:c.3751C>T	XP_011517179.1:p.Pro1251Ser
XM_011518878.1:c.3697C>T	XP_011517180.1:p.Pro1233Ser
XM_011518879.1:c.3688C>T	XP_011517181.1:p.Pro1230Ser
XM_011518880.1:c.3517C>T	XP_011517182.1:p.Pro1173Ser
XM_011518881.1:c.3106C>T	XP_011517183.1:p.Pro1036Ser
XM_011518877.3:c.3751C>T	XP_011517179.1:p.Pro1251Ser
XM_011518878.3:c.3697C>T	XP_011517180.1:p.Pro1233Ser
XM_011518879.3:c.3688C>T	XP_011517181.1:p.Pro1230Ser
XM_011518881.3:c.3106C>T	XP_011517183.1:p.Pro1036Ser
XM_017014931.1:c.3550C>T	XP_016870420.1:p.Pro1184Ser
XM_017014932.1:c.3373C>T	XP_016870421.1:p.Pro1125Ser
XM_017014933.1:c.3106C>T	XP_016870422.1:p.Pro1036Ser
XM_024447617.1:c.3106C>T	XP_024303385.1:p.Pro1036Ser
XM_024447618.1:c.3106C>T	XP_024303386.1:p.Pro1036Ser
NM_020822.3:c.3553C>T MANE Select	NP_065873.2:p.Pro1185Ser
NM_001272003.2:c.3481C>T	NP_001258932.1:p.Pro1161Ser