Canonical Allele Identifier: CA375512313

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667214C>A (hg19) ; chr9:g.135775368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775368C>A , CM000671.2:g.135775368C>A	GRCh38
NC_000009.11:g.138667214C>A , CM000671.1:g.138667214C>A	GRCh37
NC_000009.10:g.137807035C>A	NCBI36
NG_033070.1:g.78184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2302C>A MANE Select	ENSP00000360822.2:p.His768Asn
ENST00000674572.1:c.2143C>A	ENSP00000501742.1:p.His715Asn
ENST00000675090.1:c.2050C>A	ENSP00000501833.1:p.His684Asn
ENST00000675399.1:c.2050C>A	ENSP00000501932.1:p.His684Asn
ENST00000676421.1:c.2059C>A	ENSP00000502322.1:p.His687Asn
ENST00000263604.5:c.2203C>A	ENSP00000263604.4:p.His735Asn
ENST00000371757.6:c.2302C>A	ENSP00000360822.2:p.His768Asn
ENST00000460750.5:c.*1912C>A	ENSP00000418777.1:n.*1912C>A
ENST00000486577.6:c.2185C>A	ENSP00000417578.3:p.His729Asn
ENST00000487664.5:c.2302C>A	ENSP00000417851.2:p.His768Asn
ENST00000488444.6:c.2245C>A	ENSP00000419007.3:p.His749Asn
ENST00000490355.6:c.2239C>A	ENSP00000418003.3:p.His747Asn
ENST00000490363.3:n.2121C>A
ENST00000491806.6:c.2245C>A	ENSP00000419086.3:p.His749Asn
ENST00000628528.2:c.2167C>A	ENSP00000486374.1:p.His723Asn
ENST00000630792.2:c.2137C>A	ENSP00000486486.1:p.His713Asn
ENST00000631073.2:c.2245C>A	ENSP00000486130.1:p.His749Asn
ENST00000631193.1:c.151C>A	ENSP00000486830.1:p.His51Asn
NM_001272003.1:c.2167C>A	NP_001258932.1:p.His723Asn
NM_020822.2:c.2302C>A	NP_065873.2:p.His768Asn
XM_011518877.1:c.2437C>A	XP_011517179.1:p.His813Asn
XM_011518878.1:c.2446C>A	XP_011517180.1:p.His816Asn
XM_011518879.1:c.2437C>A	XP_011517181.1:p.His813Asn
XM_011518880.1:c.2203C>A	XP_011517182.1:p.His735Asn
XM_011518881.1:c.1792C>A	XP_011517183.1:p.His598Asn
XM_011518877.3:c.2437C>A	XP_011517179.1:p.His813Asn
XM_011518878.3:c.2446C>A	XP_011517180.1:p.His816Asn
XM_011518879.3:c.2437C>A	XP_011517181.1:p.His813Asn
XM_011518881.3:c.1792C>A	XP_011517183.1:p.His598Asn
XM_017014931.1:c.2236C>A	XP_016870420.1:p.His746Asn
XM_017014932.1:c.2059C>A	XP_016870421.1:p.His687Asn
XM_017014933.1:c.1792C>A	XP_016870422.1:p.His598Asn
XM_024447617.1:c.1792C>A	XP_024303385.1:p.His598Asn
XM_024447618.1:c.1792C>A	XP_024303386.1:p.His598Asn
NM_020822.3:c.2302C>A MANE Select	NP_065873.2:p.His768Asn
NM_001272003.2:c.2167C>A	NP_001258932.1:p.His723Asn