Canonical Allele Identifier: CA153318

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 129365
• ClinVar RCV Id: RCV000117371 ; RCV000475155
• dbSNP Id: rs77912754
• ExAC: 9:138678255 G / A
• gnomAD v2: 9-138678255-G-A
• gnomAD v3: 9-135786409-G-A
• gnomAD v4: 9-135786409-G-A
• MyVariant Identifiers: chr9:g.138678255G>A (hg19) ; chr9:g.135786409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135786409G>A , CM000671.2:g.135786409G>A	GRCh38
NC_000009.11:g.138678255G>A , CM000671.1:g.138678255G>A	GRCh37
NC_000009.10:g.137818076G>A	NCBI36
NG_033070.1:g.89225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3390G>A MANE Select	ENSP00000360822.2:p.Ala1130=
ENST00000674572.1:c.3231G>A	ENSP00000501742.1:p.Ala1077=
ENST00000675090.1:c.3138G>A	ENSP00000501833.1:p.Ala1046=
ENST00000675399.1:c.3138G>A	ENSP00000501932.1:p.Ala1046=
ENST00000676421.1:c.3147G>A	ENSP00000502322.1:p.Ala1049=
ENST00000263604.5:c.3291G>A	ENSP00000263604.4:p.Ala1097=
ENST00000371757.6:c.3390G>A	ENSP00000360822.2:p.Ala1130=
ENST00000460750.5:c.*3000G>A	ENSP00000418777.1:n.*3000G>A
ENST00000486577.6:c.3273G>A	ENSP00000417578.3:p.Ala1091=
ENST00000487664.5:c.3390G>A	ENSP00000417851.2:p.Ala1130=
ENST00000488444.6:c.3312G>A	ENSP00000419007.3:p.Ala1104=
ENST00000490355.6:c.3327G>A	ENSP00000418003.3:p.Ala1109=
ENST00000491806.6:c.3333G>A	ENSP00000419086.3:p.Ala1111=
ENST00000628528.2:c.3255G>A	ENSP00000486374.1:p.Ala1085=
ENST00000630792.2:c.3225G>A	ENSP00000486486.1:p.Ala1075=
ENST00000631073.2:c.3333G>A	ENSP00000486130.1:p.Ala1111=
NM_001272003.1:c.3255G>A	NP_001258932.1:p.Ala1085=
NM_020822.2:c.3390G>A	NP_065873.2:p.Ala1130=
XM_011518877.1:c.3525G>A	XP_011517179.1:p.Ala1175=
XM_011518878.1:c.3534G>A	XP_011517180.1:p.Ala1178=
XM_011518879.1:c.3525G>A	XP_011517181.1:p.Ala1175=
XM_011518880.1:c.3291G>A	XP_011517182.1:p.Ala1097=
XM_011518881.1:c.2880G>A	XP_011517183.1:p.Ala960=
XM_011518877.3:c.3525G>A	XP_011517179.1:p.Ala1175=
XM_011518878.3:c.3534G>A	XP_011517180.1:p.Ala1178=
XM_011518879.3:c.3525G>A	XP_011517181.1:p.Ala1175=
XM_011518881.3:c.2880G>A	XP_011517183.1:p.Ala960=
XM_017014931.1:c.3324G>A	XP_016870420.1:p.Ala1108=
XM_017014932.1:c.3147G>A	XP_016870421.1:p.Ala1049=
XM_017014933.1:c.2880G>A	XP_016870422.1:p.Ala960=
XM_024447617.1:c.2880G>A	XP_024303385.1:p.Ala960=
XM_024447618.1:c.2880G>A	XP_024303386.1:p.Ala960=
NM_020822.3:c.3390G>A MANE Select	NP_065873.2:p.Ala1130=
NM_001272003.2:c.3255G>A	NP_001258932.1:p.Ala1085=