Canonical Allele Identifier: CA375512366

Gene: KCNT1

Linked Data

• dbSNP Id: rs1833089344
• gnomAD v4: 9-135775378-C-T
• MyVariant Identifiers: chr9:g.138667224C>T (hg19) ; chr9:g.135775378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775378C>T , CM000671.2:g.135775378C>T	GRCh38
NC_000009.11:g.138667224C>T , CM000671.1:g.138667224C>T	GRCh37
NC_000009.10:g.137807045C>T	NCBI36
NG_033070.1:g.78194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2312C>T MANE Select	ENSP00000360822.2:p.Pro771Leu
ENST00000674572.1:c.2153C>T	ENSP00000501742.1:p.Pro718Leu
ENST00000675090.1:c.2060C>T	ENSP00000501833.1:p.Pro687Leu
ENST00000675399.1:c.2060C>T	ENSP00000501932.1:p.Pro687Leu
ENST00000676421.1:c.2069C>T	ENSP00000502322.1:p.Pro690Leu
ENST00000263604.5:c.2213C>T	ENSP00000263604.4:p.Pro738Leu
ENST00000371757.6:c.2312C>T	ENSP00000360822.2:p.Pro771Leu
ENST00000460750.5:c.*1922C>T	ENSP00000418777.1:n.*1922C>T
ENST00000486577.6:c.2195C>T	ENSP00000417578.3:p.Pro732Leu
ENST00000487664.5:c.2312C>T	ENSP00000417851.2:p.Pro771Leu
ENST00000488444.6:c.2255C>T	ENSP00000419007.3:p.Pro752Leu
ENST00000490355.6:c.2249C>T	ENSP00000418003.3:p.Pro750Leu
ENST00000490363.3:n.2131C>T
ENST00000491806.6:c.2255C>T	ENSP00000419086.3:p.Pro752Leu
ENST00000628528.2:c.2177C>T	ENSP00000486374.1:p.Pro726Leu
ENST00000630792.2:c.2147C>T	ENSP00000486486.1:p.Pro716Leu
ENST00000631073.2:c.2255C>T	ENSP00000486130.1:p.Pro752Leu
ENST00000631193.1:c.161C>T	ENSP00000486830.1:p.Pro54Leu
NM_001272003.1:c.2177C>T	NP_001258932.1:p.Pro726Leu
NM_020822.2:c.2312C>T	NP_065873.2:p.Pro771Leu
XM_011518877.1:c.2447C>T	XP_011517179.1:p.Pro816Leu
XM_011518878.1:c.2456C>T	XP_011517180.1:p.Pro819Leu
XM_011518879.1:c.2447C>T	XP_011517181.1:p.Pro816Leu
XM_011518880.1:c.2213C>T	XP_011517182.1:p.Pro738Leu
XM_011518881.1:c.1802C>T	XP_011517183.1:p.Pro601Leu
XM_011518877.3:c.2447C>T	XP_011517179.1:p.Pro816Leu
XM_011518878.3:c.2456C>T	XP_011517180.1:p.Pro819Leu
XM_011518879.3:c.2447C>T	XP_011517181.1:p.Pro816Leu
XM_011518881.3:c.1802C>T	XP_011517183.1:p.Pro601Leu
XM_017014931.1:c.2246C>T	XP_016870420.1:p.Pro749Leu
XM_017014932.1:c.2069C>T	XP_016870421.1:p.Pro690Leu
XM_017014933.1:c.1802C>T	XP_016870422.1:p.Pro601Leu
XM_024447617.1:c.1802C>T	XP_024303385.1:p.Pro601Leu
XM_024447618.1:c.1802C>T	XP_024303386.1:p.Pro601Leu
NM_020822.3:c.2312C>T MANE Select	NP_065873.2:p.Pro771Leu
NM_001272003.2:c.2177C>T	NP_001258932.1:p.Pro726Leu