Canonical Allele Identifier: CA5326839

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 1447148
• ClinVar RCV Id: RCV001988131 ; RCV003134290
• dbSNP Id: rs373755663
• ExAC: 9:138657551 C / T
• gnomAD v2: 9-138657551-C-T
• gnomAD v3: 9-135765705-C-T
• gnomAD v4: 9-135765705-C-T
• COSMIC: COSM1461004
• MyVariant Identifiers: chr9:g.138657551C>T (hg19) ; chr9:g.135765705C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765705C>T , CM000671.2:g.135765705C>T	GRCh38
NC_000009.11:g.138657551C>T , CM000671.1:g.138657551C>T	GRCh37
NC_000009.10:g.137797372C>T	NCBI36
NG_033070.1:g.68521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1282C>T MANE Select	ENSP00000360822.2:p.Arg428Trp
ENST00000636995.1:n.9C>T
ENST00000637798.1:n.21C>T
ENST00000674572.1:c.1123C>T	ENSP00000501742.1:p.Arg375Trp
ENST00000675090.1:c.1030C>T	ENSP00000501833.1:p.Arg344Trp
ENST00000675399.1:c.1030C>T	ENSP00000501932.1:p.Arg344Trp
ENST00000676421.1:c.1039C>T	ENSP00000502322.1:p.Arg347Trp
ENST00000263604.5:c.1183C>T	ENSP00000263604.4:p.Arg395Trp
ENST00000371757.6:c.1282C>T	ENSP00000360822.2:p.Arg428Trp
ENST00000460750.5:c.*892C>T	ENSP00000418777.1:n.*892C>T
ENST00000486577.6:c.1165C>T	ENSP00000417578.3:p.Arg389Trp
ENST00000487664.5:c.1282C>T	ENSP00000417851.2:p.Arg428Trp
ENST00000488444.6:c.1225C>T	ENSP00000419007.3:p.Arg409Trp
ENST00000490355.6:c.1225C>T	ENSP00000418003.3:p.Arg409Trp
ENST00000490363.3:n.1101C>T
ENST00000491806.6:c.1225C>T	ENSP00000419086.3:p.Arg409Trp
ENST00000628528.2:c.1147C>T	ENSP00000486374.1:p.Arg383Trp
ENST00000630792.2:c.1123C>T	ENSP00000486486.1:p.Arg375Trp
ENST00000631073.2:c.1225C>T	ENSP00000486130.1:p.Arg409Trp
NM_001272003.1:c.1147C>T	NP_001258932.1:p.Arg383Trp
NM_020822.2:c.1282C>T	NP_065873.2:p.Arg428Trp
XM_011518877.1:c.1417C>T	XP_011517179.1:p.Arg473Trp
XM_011518878.1:c.1426C>T	XP_011517180.1:p.Arg476Trp
XM_011518879.1:c.1417C>T	XP_011517181.1:p.Arg473Trp
XM_011518880.1:c.1183C>T	XP_011517182.1:p.Arg395Trp
XM_011518881.1:c.772C>T	XP_011517183.1:p.Arg258Trp
XM_011518877.3:c.1417C>T	XP_011517179.1:p.Arg473Trp
XM_011518878.3:c.1426C>T	XP_011517180.1:p.Arg476Trp
XM_011518879.3:c.1417C>T	XP_011517181.1:p.Arg473Trp
XM_011518881.3:c.772C>T	XP_011517183.1:p.Arg258Trp
XM_017014931.1:c.1216C>T	XP_016870420.1:p.Arg406Trp
XM_017014932.1:c.1039C>T	XP_016870421.1:p.Arg347Trp
XM_017014933.1:c.772C>T	XP_016870422.1:p.Arg258Trp
XM_024447617.1:c.772C>T	XP_024303385.1:p.Arg258Trp
XM_024447618.1:c.772C>T	XP_024303386.1:p.Arg258Trp
NM_020822.3:c.1282C>T MANE Select	NP_065873.2:p.Arg428Trp
NM_001272003.2:c.1147C>T	NP_001258932.1:p.Arg383Trp