Canonical Allele Identifier: CA375490712

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 568931
• ClinVar RCV Id: RCV000689437
• dbSNP Id: rs1564392375
• MyVariant Identifiers: chr9:g.138677171G>A (hg19) ; chr9:g.135785325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135785325G>A , CM000671.2:g.135785325G>A	GRCh38
NC_000009.11:g.138677171G>A , CM000671.1:g.138677171G>A	GRCh37
NC_000009.10:g.137816992G>A	NCBI36
NG_033070.1:g.88141G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3172G>A MANE Select	ENSP00000360822.2:p.Ala1058Thr
ENST00000674572.1:c.3013G>A	ENSP00000501742.1:p.Ala1005Thr
ENST00000675090.1:c.2920G>A	ENSP00000501833.1:p.Ala974Thr
ENST00000675399.1:c.2920G>A	ENSP00000501932.1:p.Ala974Thr
ENST00000676421.1:c.2929G>A	ENSP00000502322.1:p.Ala977Thr
ENST00000263604.5:c.3073G>A	ENSP00000263604.4:p.Ala1025Thr
ENST00000371757.6:c.3172G>A	ENSP00000360822.2:p.Ala1058Thr
ENST00000460750.5:c.*2782G>A	ENSP00000418777.1:n.*2782G>A
ENST00000486577.6:c.3055G>A	ENSP00000417578.3:p.Ala1019Thr
ENST00000487664.5:c.3172G>A	ENSP00000417851.2:p.Ala1058Thr
ENST00000488444.6:c.3099+436G>A	ENSP00000419007.3:n.3099+436G>A
ENST00000490355.6:c.3109G>A	ENSP00000418003.3:p.Ala1037Thr
ENST00000490363.3:n.2991G>A
ENST00000491806.6:c.3115G>A	ENSP00000419086.3:p.Ala1039Thr
ENST00000628528.2:c.3037G>A	ENSP00000486374.1:p.Ala1013Thr
ENST00000630792.2:c.3007G>A	ENSP00000486486.1:p.Ala1003Thr
ENST00000631073.2:c.3115G>A	ENSP00000486130.1:p.Ala1039Thr
NM_001272003.1:c.3037G>A	NP_001258932.1:p.Ala1013Thr
NM_020822.2:c.3172G>A	NP_065873.2:p.Ala1058Thr
XM_011518877.1:c.3307G>A	XP_011517179.1:p.Ala1103Thr
XM_011518878.1:c.3316G>A	XP_011517180.1:p.Ala1106Thr
XM_011518879.1:c.3307G>A	XP_011517181.1:p.Ala1103Thr
XM_011518880.1:c.3073G>A	XP_011517182.1:p.Ala1025Thr
XM_011518881.1:c.2662G>A	XP_011517183.1:p.Ala888Thr
XM_011518877.3:c.3307G>A	XP_011517179.1:p.Ala1103Thr
XM_011518878.3:c.3316G>A	XP_011517180.1:p.Ala1106Thr
XM_011518879.3:c.3307G>A	XP_011517181.1:p.Ala1103Thr
XM_011518881.3:c.2662G>A	XP_011517183.1:p.Ala888Thr
XM_017014931.1:c.3106G>A	XP_016870420.1:p.Ala1036Thr
XM_017014932.1:c.2929G>A	XP_016870421.1:p.Ala977Thr
XM_017014933.1:c.2662G>A	XP_016870422.1:p.Ala888Thr
XM_024447617.1:c.2662G>A	XP_024303385.1:p.Ala888Thr
XM_024447618.1:c.2662G>A	XP_024303386.1:p.Ala888Thr
NM_020822.3:c.3172G>A MANE Select	NP_065873.2:p.Ala1058Thr
NM_001272003.2:c.3037G>A	NP_001258932.1:p.Ala1013Thr