Canonical Allele Identifier: CA153316

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 129364
• ClinVar RCV Id: RCV000117370 ; RCV000229018 ; RCV000439332
• dbSNP Id: rs138421850
• ExAC: 9:138678253 G / A
• gnomAD v2: 9-138678253-G-A
• gnomAD v3: 9-135786407-G-A
• gnomAD v4: 9-135786407-G-A
• COSMIC: COSM3763751 ; COSM3763752
• MyVariant Identifiers: chr9:g.138678253G>A (hg19) ; chr9:g.135786407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135786407G>A , CM000671.2:g.135786407G>A	GRCh38
NC_000009.11:g.138678253G>A , CM000671.1:g.138678253G>A	GRCh37
NC_000009.10:g.137818074G>A	NCBI36
NG_033070.1:g.89223G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3388G>A MANE Select	ENSP00000360822.2:p.Ala1130Thr
ENST00000674572.1:c.3229G>A	ENSP00000501742.1:p.Ala1077Thr
ENST00000675090.1:c.3136G>A	ENSP00000501833.1:p.Ala1046Thr
ENST00000675399.1:c.3136G>A	ENSP00000501932.1:p.Ala1046Thr
ENST00000676421.1:c.3145G>A	ENSP00000502322.1:p.Ala1049Thr
ENST00000263604.5:c.3289G>A	ENSP00000263604.4:p.Ala1097Thr
ENST00000371757.6:c.3388G>A	ENSP00000360822.2:p.Ala1130Thr
ENST00000460750.5:c.*2998G>A	ENSP00000418777.1:n.*2998G>A
ENST00000486577.6:c.3271G>A	ENSP00000417578.3:p.Ala1091Thr
ENST00000487664.5:c.3388G>A	ENSP00000417851.2:p.Ala1130Thr
ENST00000488444.6:c.3310G>A	ENSP00000419007.3:p.Ala1104Thr
ENST00000490355.6:c.3325G>A	ENSP00000418003.3:p.Ala1109Thr
ENST00000491806.6:c.3331G>A	ENSP00000419086.3:p.Ala1111Thr
ENST00000628528.2:c.3253G>A	ENSP00000486374.1:p.Ala1085Thr
ENST00000630792.2:c.3223G>A	ENSP00000486486.1:p.Ala1075Thr
ENST00000631073.2:c.3331G>A	ENSP00000486130.1:p.Ala1111Thr
NM_001272003.1:c.3253G>A	NP_001258932.1:p.Ala1085Thr
NM_020822.2:c.3388G>A	NP_065873.2:p.Ala1130Thr
XM_011518877.1:c.3523G>A	XP_011517179.1:p.Ala1175Thr
XM_011518878.1:c.3532G>A	XP_011517180.1:p.Ala1178Thr
XM_011518879.1:c.3523G>A	XP_011517181.1:p.Ala1175Thr
XM_011518880.1:c.3289G>A	XP_011517182.1:p.Ala1097Thr
XM_011518881.1:c.2878G>A	XP_011517183.1:p.Ala960Thr
XM_011518877.3:c.3523G>A	XP_011517179.1:p.Ala1175Thr
XM_011518878.3:c.3532G>A	XP_011517180.1:p.Ala1178Thr
XM_011518879.3:c.3523G>A	XP_011517181.1:p.Ala1175Thr
XM_011518881.3:c.2878G>A	XP_011517183.1:p.Ala960Thr
XM_017014931.1:c.3322G>A	XP_016870420.1:p.Ala1108Thr
XM_017014932.1:c.3145G>A	XP_016870421.1:p.Ala1049Thr
XM_017014933.1:c.2878G>A	XP_016870422.1:p.Ala960Thr
XM_024447617.1:c.2878G>A	XP_024303385.1:p.Ala960Thr
XM_024447618.1:c.2878G>A	XP_024303386.1:p.Ala960Thr
NM_020822.3:c.3388G>A MANE Select	NP_065873.2:p.Ala1130Thr
NM_001272003.2:c.3253G>A	NP_001258932.1:p.Ala1085Thr