Canonical Allele Identifier: CA5326962

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 589025
• ClinVar RCV Id: RCV000862295 ; RCV001085853 ; RCV002270997 ; RCV002270996 ; RCV002317969
• dbSNP Id: rs150905302
• ExAC: 9:138661827 C / T
• gnomAD v2: 9-138661827-C-T
• gnomAD v3: 9-135769981-C-T
• gnomAD v4: 9-135769981-C-T
• MyVariant Identifiers: chr9:g.138661827C>T (hg19) ; chr9:g.135769981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769981C>T , CM000671.2:g.135769981C>T	GRCh38
NC_000009.11:g.138661827C>T , CM000671.1:g.138661827C>T	GRCh37
NC_000009.10:g.137801648C>T	NCBI36
NG_033070.1:g.72797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1545C>T MANE Select	ENSP00000360822.2:p.Ala515=
ENST00000674572.1:c.1386C>T	ENSP00000501742.1:p.Ala462=
ENST00000675090.1:c.1293C>T	ENSP00000501833.1:p.Ala431=
ENST00000675399.1:c.1293C>T	ENSP00000501932.1:p.Ala431=
ENST00000676421.1:c.1302C>T	ENSP00000502322.1:p.Ala434=
ENST00000263604.5:c.1446C>T	ENSP00000263604.4:p.Ala482=
ENST00000371757.6:c.1545C>T	ENSP00000360822.2:p.Ala515=
ENST00000460750.5:c.*1155C>T	ENSP00000418777.1:n.*1155C>T
ENST00000486577.6:c.1428C>T	ENSP00000417578.3:p.Ala476=
ENST00000487664.5:c.1545C>T	ENSP00000417851.2:p.Ala515=
ENST00000488444.6:c.1488C>T	ENSP00000419007.3:p.Ala496=
ENST00000490355.6:c.1488C>T	ENSP00000418003.3:p.Ala496=
ENST00000490363.3:n.1364C>T
ENST00000491806.6:c.1488C>T	ENSP00000419086.3:p.Ala496=
ENST00000628528.2:c.1410C>T	ENSP00000486374.1:p.Ala470=
ENST00000630792.2:c.1386C>T	ENSP00000486486.1:p.Ala462=
ENST00000631073.2:c.1488C>T	ENSP00000486130.1:p.Ala496=
NM_001272003.1:c.1410C>T	NP_001258932.1:p.Ala470=
NM_020822.2:c.1545C>T	NP_065873.2:p.Ala515=
XM_011518877.1:c.1680C>T	XP_011517179.1:p.Ala560=
XM_011518878.1:c.1689C>T	XP_011517180.1:p.Ala563=
XM_011518879.1:c.1680C>T	XP_011517181.1:p.Ala560=
XM_011518880.1:c.1446C>T	XP_011517182.1:p.Ala482=
XM_011518881.1:c.1035C>T	XP_011517183.1:p.Ala345=
XM_011518877.3:c.1680C>T	XP_011517179.1:p.Ala560=
XM_011518878.3:c.1689C>T	XP_011517180.1:p.Ala563=
XM_011518879.3:c.1680C>T	XP_011517181.1:p.Ala560=
XM_011518881.3:c.1035C>T	XP_011517183.1:p.Ala345=
XM_017014931.1:c.1479C>T	XP_016870420.1:p.Ala493=
XM_017014932.1:c.1302C>T	XP_016870421.1:p.Ala434=
XM_017014933.1:c.1035C>T	XP_016870422.1:p.Ala345=
XM_024447617.1:c.1035C>T	XP_024303385.1:p.Ala345=
XM_024447618.1:c.1035C>T	XP_024303386.1:p.Ala345=
NM_020822.3:c.1545C>T MANE Select	NP_065873.2:p.Ala515=
NM_001272003.2:c.1410C>T	NP_001258932.1:p.Ala470=