Canonical Allele Identifier: CA5326964

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 390166
• ClinVar RCV Id: RCV000424587
• dbSNP Id: rs756721305
• ExAC: 9:138661836 G / A
• gnomAD v2: 9-138661836-G-A
• gnomAD v4: 9-135769990-G-A
• MyVariant Identifiers: chr9:g.138661836G>A (hg19) ; chr9:g.135769990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769990G>A , CM000671.2:g.135769990G>A	GRCh38
NC_000009.11:g.138661836G>A , CM000671.1:g.138661836G>A	GRCh37
NC_000009.10:g.137801657G>A	NCBI36
NG_033070.1:g.72806G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1554G>A MANE Select	ENSP00000360822.2:p.Ala518=
ENST00000674572.1:c.1395G>A	ENSP00000501742.1:p.Ala465=
ENST00000675090.1:c.1302G>A	ENSP00000501833.1:p.Ala434=
ENST00000675399.1:c.1302G>A	ENSP00000501932.1:p.Ala434=
ENST00000676421.1:c.1311G>A	ENSP00000502322.1:p.Ala437=
ENST00000263604.5:c.1455G>A	ENSP00000263604.4:p.Ala485=
ENST00000371757.6:c.1554G>A	ENSP00000360822.2:p.Ala518=
ENST00000460750.5:c.*1164G>A	ENSP00000418777.1:n.*1164G>A
ENST00000486577.6:c.1437G>A	ENSP00000417578.3:p.Ala479=
ENST00000487664.5:c.1554G>A	ENSP00000417851.2:p.Ala518=
ENST00000488444.6:c.1497G>A	ENSP00000419007.3:p.Ala499=
ENST00000490355.6:c.1497G>A	ENSP00000418003.3:p.Ala499=
ENST00000490363.3:n.1373G>A
ENST00000491806.6:c.1497G>A	ENSP00000419086.3:p.Ala499=
ENST00000628528.2:c.1419G>A	ENSP00000486374.1:p.Ala473=
ENST00000630792.2:c.1395G>A	ENSP00000486486.1:p.Ala465=
ENST00000631073.2:c.1497G>A	ENSP00000486130.1:p.Ala499=
NM_001272003.1:c.1419G>A	NP_001258932.1:p.Ala473=
NM_020822.2:c.1554G>A	NP_065873.2:p.Ala518=
XM_011518877.1:c.1689G>A	XP_011517179.1:p.Ala563=
XM_011518878.1:c.1698G>A	XP_011517180.1:p.Ala566=
XM_011518879.1:c.1689G>A	XP_011517181.1:p.Ala563=
XM_011518880.1:c.1455G>A	XP_011517182.1:p.Ala485=
XM_011518881.1:c.1044G>A	XP_011517183.1:p.Ala348=
XM_011518877.3:c.1689G>A	XP_011517179.1:p.Ala563=
XM_011518878.3:c.1698G>A	XP_011517180.1:p.Ala566=
XM_011518879.3:c.1689G>A	XP_011517181.1:p.Ala563=
XM_011518881.3:c.1044G>A	XP_011517183.1:p.Ala348=
XM_017014931.1:c.1488G>A	XP_016870420.1:p.Ala496=
XM_017014932.1:c.1311G>A	XP_016870421.1:p.Ala437=
XM_017014933.1:c.1044G>A	XP_016870422.1:p.Ala348=
XM_024447617.1:c.1044G>A	XP_024303385.1:p.Ala348=
XM_024447618.1:c.1044G>A	XP_024303386.1:p.Ala348=
NM_020822.3:c.1554G>A MANE Select	NP_065873.2:p.Ala518=
NM_001272003.2:c.1419G>A	NP_001258932.1:p.Ala473=