Canonical Allele Identifier: CA202185

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 129362
• ClinVar RCV Id: RCV000176945 ; RCV000418473 ; RCV001085974
• dbSNP Id: rs200642629
• ExAC: 9:138678160 C / T
• gnomAD v2: 9-138678160-C-T
• gnomAD v3: 9-135786314-C-T
• gnomAD v4: 9-135786314-C-T
• MyVariant Identifiers: chr9:g.138678160C>T (hg19) ; chr9:g.135786314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135786314C>T , CM000671.2:g.135786314C>T	GRCh38
NC_000009.11:g.138678160C>T , CM000671.1:g.138678160C>T	GRCh37
NC_000009.10:g.137817981C>T	NCBI36
NG_033070.1:g.89130C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3295C>T MANE Select	ENSP00000360822.2:p.Pro1099Ser
ENST00000674572.1:c.3136C>T	ENSP00000501742.1:p.Pro1046Ser
ENST00000675090.1:c.3043C>T	ENSP00000501833.1:p.Pro1015Ser
ENST00000675399.1:c.3043C>T	ENSP00000501932.1:p.Pro1015Ser
ENST00000676421.1:c.3052C>T	ENSP00000502322.1:p.Pro1018Ser
ENST00000263604.5:c.3196C>T	ENSP00000263604.4:p.Pro1066Ser
ENST00000371757.6:c.3295C>T	ENSP00000360822.2:p.Pro1099Ser
ENST00000460750.5:c.*2905C>T	ENSP00000418777.1:n.*2905C>T
ENST00000486577.6:c.3178C>T	ENSP00000417578.3:p.Pro1060Ser
ENST00000487664.5:c.3295C>T	ENSP00000417851.2:p.Pro1099Ser
ENST00000488444.6:c.3217C>T	ENSP00000419007.3:p.Pro1073Ser
ENST00000490355.6:c.3232C>T	ENSP00000418003.3:p.Pro1078Ser
ENST00000490363.3:n.3980C>T
ENST00000491806.6:c.3238C>T	ENSP00000419086.3:p.Pro1080Ser
ENST00000628528.2:c.3160C>T	ENSP00000486374.1:p.Pro1054Ser
ENST00000630792.2:c.3130C>T	ENSP00000486486.1:p.Pro1044Ser
ENST00000631073.2:c.3238C>T	ENSP00000486130.1:p.Pro1080Ser
NM_001272003.1:c.3160C>T	NP_001258932.1:p.Pro1054Ser
NM_020822.2:c.3295C>T	NP_065873.2:p.Pro1099Ser
XM_011518877.1:c.3430C>T	XP_011517179.1:p.Pro1144Ser
XM_011518878.1:c.3439C>T	XP_011517180.1:p.Pro1147Ser
XM_011518879.1:c.3430C>T	XP_011517181.1:p.Pro1144Ser
XM_011518880.1:c.3196C>T	XP_011517182.1:p.Pro1066Ser
XM_011518881.1:c.2785C>T	XP_011517183.1:p.Pro929Ser
XM_011518877.3:c.3430C>T	XP_011517179.1:p.Pro1144Ser
XM_011518878.3:c.3439C>T	XP_011517180.1:p.Pro1147Ser
XM_011518879.3:c.3430C>T	XP_011517181.1:p.Pro1144Ser
XM_011518881.3:c.2785C>T	XP_011517183.1:p.Pro929Ser
XM_017014931.1:c.3229C>T	XP_016870420.1:p.Pro1077Ser
XM_017014932.1:c.3052C>T	XP_016870421.1:p.Pro1018Ser
XM_017014933.1:c.2785C>T	XP_016870422.1:p.Pro929Ser
XM_024447617.1:c.2785C>T	XP_024303385.1:p.Pro929Ser
XM_024447618.1:c.2785C>T	XP_024303386.1:p.Pro929Ser
NM_020822.3:c.3295C>T MANE Select	NP_065873.2:p.Pro1099Ser
NM_001272003.2:c.3160C>T	NP_001258932.1:p.Pro1054Ser