Canonical Allele Identifier: CA375512248

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775353-T-C
• MyVariant Identifiers: chr9:g.138667199T>C (hg19) ; chr9:g.135775353T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775353T>C , CM000671.2:g.135775353T>C	GRCh38
NC_000009.11:g.138667199T>C , CM000671.1:g.138667199T>C	GRCh37
NC_000009.10:g.137807020T>C	NCBI36
NG_033070.1:g.78169T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2287T>C MANE Select	ENSP00000360822.2:p.Ser763Pro
ENST00000674572.1:c.2128T>C	ENSP00000501742.1:p.Ser710Pro
ENST00000675090.1:c.2035T>C	ENSP00000501833.1:p.Ser679Pro
ENST00000675399.1:c.2035T>C	ENSP00000501932.1:p.Ser679Pro
ENST00000676421.1:c.2044T>C	ENSP00000502322.1:p.Ser682Pro
ENST00000263604.5:c.2188T>C	ENSP00000263604.4:p.Ser730Pro
ENST00000371757.6:c.2287T>C	ENSP00000360822.2:p.Ser763Pro
ENST00000460750.5:c.*1897T>C	ENSP00000418777.1:n.*1897T>C
ENST00000486577.6:c.2170T>C	ENSP00000417578.3:p.Ser724Pro
ENST00000487664.5:c.2287T>C	ENSP00000417851.2:p.Ser763Pro
ENST00000488444.6:c.2230T>C	ENSP00000419007.3:p.Ser744Pro
ENST00000490355.6:c.2224T>C	ENSP00000418003.3:p.Ser742Pro
ENST00000490363.3:n.2106T>C
ENST00000491806.6:c.2230T>C	ENSP00000419086.3:p.Ser744Pro
ENST00000628528.2:c.2152T>C	ENSP00000486374.1:p.Ser718Pro
ENST00000630792.2:c.2122T>C	ENSP00000486486.1:p.Ser708Pro
ENST00000631073.2:c.2230T>C	ENSP00000486130.1:p.Ser744Pro
ENST00000631193.1:c.136T>C	ENSP00000486830.1:p.Ser46Pro
NM_001272003.1:c.2152T>C	NP_001258932.1:p.Ser718Pro
NM_020822.2:c.2287T>C	NP_065873.2:p.Ser763Pro
XM_011518877.1:c.2422T>C	XP_011517179.1:p.Ser808Pro
XM_011518878.1:c.2431T>C	XP_011517180.1:p.Ser811Pro
XM_011518879.1:c.2422T>C	XP_011517181.1:p.Ser808Pro
XM_011518880.1:c.2188T>C	XP_011517182.1:p.Ser730Pro
XM_011518881.1:c.1777T>C	XP_011517183.1:p.Ser593Pro
XM_011518877.3:c.2422T>C	XP_011517179.1:p.Ser808Pro
XM_011518878.3:c.2431T>C	XP_011517180.1:p.Ser811Pro
XM_011518879.3:c.2422T>C	XP_011517181.1:p.Ser808Pro
XM_011518881.3:c.1777T>C	XP_011517183.1:p.Ser593Pro
XM_017014931.1:c.2221T>C	XP_016870420.1:p.Ser741Pro
XM_017014932.1:c.2044T>C	XP_016870421.1:p.Ser682Pro
XM_017014933.1:c.1777T>C	XP_016870422.1:p.Ser593Pro
XM_024447617.1:c.1777T>C	XP_024303385.1:p.Ser593Pro
XM_024447618.1:c.1777T>C	XP_024303386.1:p.Ser593Pro
NM_020822.3:c.2287T>C MANE Select	NP_065873.2:p.Ser763Pro
NM_001272003.2:c.2152T>C	NP_001258932.1:p.Ser718Pro