Canonical Allele Identifier: CA375512165

Gene: KCNT1

Linked Data

• dbSNP Id: rs1487574287
• gnomAD v3: 9-135775329-C-T
• gnomAD v4: 9-135775329-C-T
• MyVariant Identifiers: chr9:g.138667175C>T (hg19) ; chr9:g.135775329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775329C>T , CM000671.2:g.135775329C>T	GRCh38
NC_000009.11:g.138667175C>T , CM000671.1:g.138667175C>T	GRCh37
NC_000009.10:g.137806996C>T	NCBI36
NG_033070.1:g.78145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2263C>T MANE Select	ENSP00000360822.2:p.Pro755Ser
ENST00000674572.1:c.2104C>T	ENSP00000501742.1:p.Pro702Ser
ENST00000675090.1:c.2011C>T	ENSP00000501833.1:p.Pro671Ser
ENST00000675399.1:c.2011C>T	ENSP00000501932.1:p.Pro671Ser
ENST00000676421.1:c.2020C>T	ENSP00000502322.1:p.Pro674Ser
ENST00000263604.5:c.2164C>T	ENSP00000263604.4:p.Pro722Ser
ENST00000371757.6:c.2263C>T	ENSP00000360822.2:p.Pro755Ser
ENST00000460750.5:c.*1873C>T	ENSP00000418777.1:n.*1873C>T
ENST00000486577.6:c.2146C>T	ENSP00000417578.3:p.Pro716Ser
ENST00000487664.5:c.2263C>T	ENSP00000417851.2:p.Pro755Ser
ENST00000488444.6:c.2206C>T	ENSP00000419007.3:p.Pro736Ser
ENST00000490355.6:c.2200C>T	ENSP00000418003.3:p.Pro734Ser
ENST00000490363.3:n.2082C>T
ENST00000491806.6:c.2206C>T	ENSP00000419086.3:p.Pro736Ser
ENST00000628528.2:c.2128C>T	ENSP00000486374.1:p.Pro710Ser
ENST00000630792.2:c.2098C>T	ENSP00000486486.1:p.Pro700Ser
ENST00000631073.2:c.2206C>T	ENSP00000486130.1:p.Pro736Ser
ENST00000631193.1:c.112C>T	ENSP00000486830.1:p.Pro38Ser
NM_001272003.1:c.2128C>T	NP_001258932.1:p.Pro710Ser
NM_020822.2:c.2263C>T	NP_065873.2:p.Pro755Ser
XM_011518877.1:c.2398C>T	XP_011517179.1:p.Pro800Ser
XM_011518878.1:c.2407C>T	XP_011517180.1:p.Pro803Ser
XM_011518879.1:c.2398C>T	XP_011517181.1:p.Pro800Ser
XM_011518880.1:c.2164C>T	XP_011517182.1:p.Pro722Ser
XM_011518881.1:c.1753C>T	XP_011517183.1:p.Pro585Ser
XM_011518877.3:c.2398C>T	XP_011517179.1:p.Pro800Ser
XM_011518878.3:c.2407C>T	XP_011517180.1:p.Pro803Ser
XM_011518879.3:c.2398C>T	XP_011517181.1:p.Pro800Ser
XM_011518881.3:c.1753C>T	XP_011517183.1:p.Pro585Ser
XM_017014931.1:c.2197C>T	XP_016870420.1:p.Pro733Ser
XM_017014932.1:c.2020C>T	XP_016870421.1:p.Pro674Ser
XM_017014933.1:c.1753C>T	XP_016870422.1:p.Pro585Ser
XM_024447617.1:c.1753C>T	XP_024303385.1:p.Pro585Ser
XM_024447618.1:c.1753C>T	XP_024303386.1:p.Pro585Ser
NM_020822.3:c.2263C>T MANE Select	NP_065873.2:p.Pro755Ser
NM_001272003.2:c.2128C>T	NP_001258932.1:p.Pro710Ser