Canonical Allele Identifier: CA375505953

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770003-T-C
• MyVariant Identifiers: chr9:g.138661849T>C (hg19) ; chr9:g.135770003T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770003T>C , CM000671.2:g.135770003T>C	GRCh38
NC_000009.11:g.138661849T>C , CM000671.1:g.138661849T>C	GRCh37
NC_000009.10:g.137801670T>C	NCBI36
NG_033070.1:g.72819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1567T>C MANE Select	ENSP00000360822.2:p.Cys523Arg
ENST00000674572.1:c.1408T>C	ENSP00000501742.1:p.Cys470Arg
ENST00000675090.1:c.1315T>C	ENSP00000501833.1:p.Cys439Arg
ENST00000675399.1:c.1315T>C	ENSP00000501932.1:p.Cys439Arg
ENST00000676421.1:c.1324T>C	ENSP00000502322.1:p.Cys442Arg
ENST00000263604.5:c.1468T>C	ENSP00000263604.4:p.Cys490Arg
ENST00000371757.6:c.1567T>C	ENSP00000360822.2:p.Cys523Arg
ENST00000460750.5:c.*1177T>C	ENSP00000418777.1:n.*1177T>C
ENST00000486577.6:c.1450T>C	ENSP00000417578.3:p.Cys484Arg
ENST00000487664.5:c.1567T>C	ENSP00000417851.2:p.Cys523Arg
ENST00000488444.6:c.1510T>C	ENSP00000419007.3:p.Cys504Arg
ENST00000490355.6:c.1510T>C	ENSP00000418003.3:p.Cys504Arg
ENST00000490363.3:n.1386T>C
ENST00000491806.6:c.1510T>C	ENSP00000419086.3:p.Cys504Arg
ENST00000628528.2:c.1432T>C	ENSP00000486374.1:p.Cys478Arg
ENST00000630792.2:c.1408T>C	ENSP00000486486.1:p.Cys470Arg
ENST00000631073.2:c.1510T>C	ENSP00000486130.1:p.Cys504Arg
NM_001272003.1:c.1432T>C	NP_001258932.1:p.Cys478Arg
NM_020822.2:c.1567T>C	NP_065873.2:p.Cys523Arg
XM_011518877.1:c.1702T>C	XP_011517179.1:p.Cys568Arg
XM_011518878.1:c.1711T>C	XP_011517180.1:p.Cys571Arg
XM_011518879.1:c.1702T>C	XP_011517181.1:p.Cys568Arg
XM_011518880.1:c.1468T>C	XP_011517182.1:p.Cys490Arg
XM_011518881.1:c.1057T>C	XP_011517183.1:p.Cys353Arg
XM_011518877.3:c.1702T>C	XP_011517179.1:p.Cys568Arg
XM_011518878.3:c.1711T>C	XP_011517180.1:p.Cys571Arg
XM_011518879.3:c.1702T>C	XP_011517181.1:p.Cys568Arg
XM_011518881.3:c.1057T>C	XP_011517183.1:p.Cys353Arg
XM_017014931.1:c.1501T>C	XP_016870420.1:p.Cys501Arg
XM_017014932.1:c.1324T>C	XP_016870421.1:p.Cys442Arg
XM_017014933.1:c.1057T>C	XP_016870422.1:p.Cys353Arg
XM_024447617.1:c.1057T>C	XP_024303385.1:p.Cys353Arg
XM_024447618.1:c.1057T>C	XP_024303386.1:p.Cys353Arg
NM_020822.3:c.1567T>C MANE Select	NP_065873.2:p.Cys523Arg
NM_001272003.2:c.1432T>C	NP_001258932.1:p.Cys478Arg