Canonical Allele Identifier: CA206835

Gene: KCNT1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135792094G>A , CM000671.2:g.135792094G>A	GRCh38
NC_000009.11:g.138683940G>A , CM000671.1:g.138683940G>A	GRCh37
NC_000009.10:g.137823761G>A	NCBI36
NG_033070.1:g.94910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3641G>A MANE Select	ENSP00000360822.2:p.Arg1214Gln
ENST00000674572.1:c.3545G>A	ENSP00000501742.1:p.Arg1182Gln
ENST00000675090.1:c.3389G>A	ENSP00000501833.1:p.Arg1130Gln
ENST00000675399.1:c.3452G>A	ENSP00000501932.1:p.Arg1151Gln
ENST00000676421.1:c.3461G>A	ENSP00000502322.1:p.Arg1154Gln
ENST00000263604.5:c.3605G>A	ENSP00000263604.4:p.Arg1202Gln
ENST00000371757.6:c.3641G>A	ENSP00000360822.2:p.Arg1214Gln
ENST00000460750.5:c.*3314G>A	ENSP00000418777.1:n.*3314G>A
ENST00000475008.1:n.2947G>A
ENST00000486577.6:c.3587G>A	ENSP00000417578.3:p.Arg1196Gln
ENST00000487664.5:c.3704G>A	ENSP00000417851.2:p.Arg1235Gln
ENST00000488444.6:c.3626G>A	ENSP00000419007.3:p.Arg1209Gln
ENST00000490355.6:c.3641G>A	ENSP00000418003.3:p.Arg1214Gln
ENST00000491806.6:c.3584G>A	ENSP00000419086.3:p.Arg1195Gln
ENST00000628528.2:c.3569G>A	ENSP00000486374.1:p.Arg1190Gln
ENST00000630792.2:c.3539G>A	ENSP00000486486.1:p.Arg1180Gln
ENST00000631073.2:c.3647G>A	ENSP00000486130.1:p.Arg1216Gln
NM_001272003.1:c.3569G>A	NP_001258932.1:p.Arg1190Gln
NM_020822.2:c.3641G>A	NP_065873.2:p.Arg1214Gln
XM_011518877.1:c.3839G>A	XP_011517179.1:p.Arg1280Gln
XM_011518878.1:c.3785G>A	XP_011517180.1:p.Arg1262Gln
XM_011518879.1:c.3776G>A	XP_011517181.1:p.Arg1259Gln
XM_011518880.1:c.3605G>A	XP_011517182.1:p.Arg1202Gln
XM_011518881.1:c.3194G>A	XP_011517183.1:p.Arg1065Gln
XM_011518877.3:c.3839G>A	XP_011517179.1:p.Arg1280Gln
XM_011518878.3:c.3785G>A	XP_011517180.1:p.Arg1262Gln
XM_011518879.3:c.3776G>A	XP_011517181.1:p.Arg1259Gln
XM_011518881.3:c.3194G>A	XP_011517183.1:p.Arg1065Gln
XM_017014931.1:c.3638G>A	XP_016870420.1:p.Arg1213Gln
XM_017014932.1:c.3461G>A	XP_016870421.1:p.Arg1154Gln
XM_017014933.1:c.3194G>A	XP_016870422.1:p.Arg1065Gln
XM_024447617.1:c.3194G>A	XP_024303385.1:p.Arg1065Gln
XM_024447618.1:c.3194G>A	XP_024303386.1:p.Arg1065Gln
NM_020822.3:c.3641G>A MANE Select	NP_065873.2:p.Arg1214Gln
NM_001272003.2:c.3569G>A	NP_001258932.1:p.Arg1190Gln