Canonical Allele Identifier: CA5327046

Gene: KCNT1

Linked Data

• dbSNP Id: rs200110001
• ExAC: 9:138662271 G / A
• gnomAD v2: 9-138662271-G-A
• gnomAD v3: 9-135770425-G-A
• gnomAD v4: 9-135770425-G-A
• MyVariant Identifiers: chr9:g.138662271G>A (hg19) ; chr9:g.135770425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770425G>A , CM000671.2:g.135770425G>A	GRCh38
NC_000009.11:g.138662271G>A , CM000671.1:g.138662271G>A	GRCh37
NC_000009.10:g.137802092G>A	NCBI36
NG_033070.1:g.73241G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1747G>A MANE Select	ENSP00000360822.2:p.Ala583Thr
ENST00000674572.1:c.1588G>A	ENSP00000501742.1:p.Ala530Thr
ENST00000675090.1:c.1495G>A	ENSP00000501833.1:p.Ala499Thr
ENST00000675399.1:c.1495G>A	ENSP00000501932.1:p.Ala499Thr
ENST00000676421.1:c.1504G>A	ENSP00000502322.1:p.Ala502Thr
ENST00000263604.5:c.1648G>A	ENSP00000263604.4:p.Ala550Thr
ENST00000371757.6:c.1747G>A	ENSP00000360822.2:p.Ala583Thr
ENST00000460750.5:c.*1357G>A	ENSP00000418777.1:n.*1357G>A
ENST00000486577.6:c.1630G>A	ENSP00000417578.3:p.Ala544Thr
ENST00000487664.5:c.1747G>A	ENSP00000417851.2:p.Ala583Thr
ENST00000488444.6:c.1690G>A	ENSP00000419007.3:p.Ala564Thr
ENST00000490355.6:c.1690G>A	ENSP00000418003.3:p.Ala564Thr
ENST00000490363.3:n.1566G>A
ENST00000491806.6:c.1690G>A	ENSP00000419086.3:p.Ala564Thr
ENST00000628528.2:c.1612G>A	ENSP00000486374.1:p.Ala538Thr
ENST00000630792.2:c.1588G>A	ENSP00000486486.1:p.Ala530Thr
ENST00000631073.2:c.1690G>A	ENSP00000486130.1:p.Ala564Thr
NM_001272003.1:c.1612G>A	NP_001258932.1:p.Ala538Thr
NM_020822.2:c.1747G>A	NP_065873.2:p.Ala583Thr
XM_011518877.1:c.1882G>A	XP_011517179.1:p.Ala628Thr
XM_011518878.1:c.1891G>A	XP_011517180.1:p.Ala631Thr
XM_011518879.1:c.1882G>A	XP_011517181.1:p.Ala628Thr
XM_011518880.1:c.1648G>A	XP_011517182.1:p.Ala550Thr
XM_011518881.1:c.1237G>A	XP_011517183.1:p.Ala413Thr
XM_011518877.3:c.1882G>A	XP_011517179.1:p.Ala628Thr
XM_011518878.3:c.1891G>A	XP_011517180.1:p.Ala631Thr
XM_011518879.3:c.1882G>A	XP_011517181.1:p.Ala628Thr
XM_011518881.3:c.1237G>A	XP_011517183.1:p.Ala413Thr
XM_017014931.1:c.1681G>A	XP_016870420.1:p.Ala561Thr
XM_017014932.1:c.1504G>A	XP_016870421.1:p.Ala502Thr
XM_017014933.1:c.1237G>A	XP_016870422.1:p.Ala413Thr
XM_024447617.1:c.1237G>A	XP_024303385.1:p.Ala413Thr
XM_024447618.1:c.1237G>A	XP_024303386.1:p.Ala413Thr
NM_020822.3:c.1747G>A MANE Select	NP_065873.2:p.Ala583Thr
NM_001272003.2:c.1612G>A	NP_001258932.1:p.Ala538Thr