Canonical Allele Identifier: CA10605542

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 286710
• ClinVar RCV Id: RCV001004680 ; RCV001420735
• dbSNP Id: rs886043455
• gnomAD v4: 9-135784031-G-A
• MyVariant Identifiers: chr9:g.138675877G>A (hg19) ; chr9:g.135784031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135784031G>A , CM000671.2:g.135784031G>A	GRCh38
NC_000009.11:g.138675877G>A , CM000671.1:g.138675877G>A	GRCh37
NC_000009.10:g.137815698G>A	NCBI36
NG_033070.1:g.86847G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2849G>A MANE Select	ENSP00000360822.2:p.Arg950Gln
ENST00000674572.1:c.2690G>A	ENSP00000501742.1:p.Arg897Gln
ENST00000675090.1:c.2597G>A	ENSP00000501833.1:p.Arg866Gln
ENST00000675399.1:c.2597G>A	ENSP00000501932.1:p.Arg866Gln
ENST00000676421.1:c.2606G>A	ENSP00000502322.1:p.Arg869Gln
ENST00000263604.5:c.2750G>A	ENSP00000263604.4:p.Arg917Gln
ENST00000371757.6:c.2849G>A	ENSP00000360822.2:p.Arg950Gln
ENST00000460750.5:c.*2459G>A	ENSP00000418777.1:n.*2459G>A
ENST00000486577.6:c.2732G>A	ENSP00000417578.3:p.Arg911Gln
ENST00000487664.5:c.2849G>A	ENSP00000417851.2:p.Arg950Gln
ENST00000488444.6:c.2792G>A	ENSP00000419007.3:p.Arg931Gln
ENST00000490355.6:c.2786G>A	ENSP00000418003.3:p.Arg929Gln
ENST00000490363.3:n.2668G>A
ENST00000491806.6:c.2792G>A	ENSP00000419086.3:p.Arg931Gln
ENST00000628528.2:c.2714G>A	ENSP00000486374.1:p.Arg905Gln
ENST00000630792.2:c.2684G>A	ENSP00000486486.1:p.Arg895Gln
ENST00000631073.2:c.2792G>A	ENSP00000486130.1:p.Arg931Gln
ENST00000631193.1:c.715G>A	ENSP00000486830.1:n.715G>A
NM_001272003.1:c.2714G>A	NP_001258932.1:p.Arg905Gln
NM_020822.2:c.2849G>A	NP_065873.2:p.Arg950Gln
XM_011518877.1:c.2984G>A	XP_011517179.1:p.Arg995Gln
XM_011518878.1:c.2993G>A	XP_011517180.1:p.Arg998Gln
XM_011518879.1:c.2984G>A	XP_011517181.1:p.Arg995Gln
XM_011518880.1:c.2750G>A	XP_011517182.1:p.Arg917Gln
XM_011518881.1:c.2339G>A	XP_011517183.1:p.Arg780Gln
XM_011518877.3:c.2984G>A	XP_011517179.1:p.Arg995Gln
XM_011518878.3:c.2993G>A	XP_011517180.1:p.Arg998Gln
XM_011518879.3:c.2984G>A	XP_011517181.1:p.Arg995Gln
XM_011518881.3:c.2339G>A	XP_011517183.1:p.Arg780Gln
XM_017014931.1:c.2783G>A	XP_016870420.1:p.Arg928Gln
XM_017014932.1:c.2606G>A	XP_016870421.1:p.Arg869Gln
XM_017014933.1:c.2339G>A	XP_016870422.1:p.Arg780Gln
XM_024447617.1:c.2339G>A	XP_024303385.1:p.Arg780Gln
XM_024447618.1:c.2339G>A	XP_024303386.1:p.Arg780Gln
XR_001746976.1:n.90+17C>T
XR_001746977.1:n.90+17C>T
NM_020822.3:c.2849G>A MANE Select	NP_065873.2:p.Arg950Gln
NM_001272003.2:c.2714G>A	NP_001258932.1:p.Arg905Gln