Canonical Allele Identifier: CA207727

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 211241
• ClinVar RCV Id: RCV000193920 ; RCV000461300 ; RCV002269967 ; RCV002269968 ; RCV002314824
• dbSNP Id: rs151080601
• ExAC: 9:138661815 G / A
• gnomAD v2: 9-138661815-G-A
• gnomAD v3: 9-135769969-G-A
• gnomAD v4: 9-135769969-G-A
• MyVariant Identifiers: chr9:g.138661815G>A (hg19) ; chr9:g.135769969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769969G>A , CM000671.2:g.135769969G>A	GRCh38
NC_000009.11:g.138661815G>A , CM000671.1:g.138661815G>A	GRCh37
NC_000009.10:g.137801636G>A	NCBI36
NG_033070.1:g.72785G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1533G>A MANE Select	ENSP00000360822.2:p.Glu511=
ENST00000674572.1:c.1374G>A	ENSP00000501742.1:p.Glu458=
ENST00000675090.1:c.1281G>A	ENSP00000501833.1:p.Glu427=
ENST00000675399.1:c.1281G>A	ENSP00000501932.1:p.Glu427=
ENST00000676421.1:c.1290G>A	ENSP00000502322.1:p.Glu430=
ENST00000263604.5:c.1434G>A	ENSP00000263604.4:p.Glu478=
ENST00000371757.6:c.1533G>A	ENSP00000360822.2:p.Glu511=
ENST00000460750.5:c.*1143G>A	ENSP00000418777.1:n.*1143G>A
ENST00000486577.6:c.1416G>A	ENSP00000417578.3:p.Glu472=
ENST00000487664.5:c.1533G>A	ENSP00000417851.2:p.Glu511=
ENST00000488444.6:c.1476G>A	ENSP00000419007.3:p.Glu492=
ENST00000490355.6:c.1476G>A	ENSP00000418003.3:p.Glu492=
ENST00000490363.3:n.1352G>A
ENST00000491806.6:c.1476G>A	ENSP00000419086.3:p.Glu492=
ENST00000628528.2:c.1398G>A	ENSP00000486374.1:p.Glu466=
ENST00000630792.2:c.1374G>A	ENSP00000486486.1:p.Glu458=
ENST00000631073.2:c.1476G>A	ENSP00000486130.1:p.Glu492=
NM_001272003.1:c.1398G>A	NP_001258932.1:p.Glu466=
NM_020822.2:c.1533G>A	NP_065873.2:p.Glu511=
XM_011518877.1:c.1668G>A	XP_011517179.1:p.Glu556=
XM_011518878.1:c.1677G>A	XP_011517180.1:p.Glu559=
XM_011518879.1:c.1668G>A	XP_011517181.1:p.Glu556=
XM_011518880.1:c.1434G>A	XP_011517182.1:p.Glu478=
XM_011518881.1:c.1023G>A	XP_011517183.1:p.Glu341=
XM_011518877.3:c.1668G>A	XP_011517179.1:p.Glu556=
XM_011518878.3:c.1677G>A	XP_011517180.1:p.Glu559=
XM_011518879.3:c.1668G>A	XP_011517181.1:p.Glu556=
XM_011518881.3:c.1023G>A	XP_011517183.1:p.Glu341=
XM_017014931.1:c.1467G>A	XP_016870420.1:p.Glu489=
XM_017014932.1:c.1290G>A	XP_016870421.1:p.Glu430=
XM_017014933.1:c.1023G>A	XP_016870422.1:p.Glu341=
XM_024447617.1:c.1023G>A	XP_024303385.1:p.Glu341=
XM_024447618.1:c.1023G>A	XP_024303386.1:p.Glu341=
NM_020822.3:c.1533G>A MANE Select	NP_065873.2:p.Glu511=
NM_001272003.2:c.1398G>A	NP_001258932.1:p.Glu466=