Canonical Allele Identifier: CA375512325

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667217C>A (hg19) ; chr9:g.135775371C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775371C>A , CM000671.2:g.135775371C>A	GRCh38
NC_000009.11:g.138667217C>A , CM000671.1:g.138667217C>A	GRCh37
NC_000009.10:g.137807038C>A	NCBI36
NG_033070.1:g.78187C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2305C>A MANE Select	ENSP00000360822.2:p.Leu769Ile
ENST00000674572.1:c.2146C>A	ENSP00000501742.1:p.Leu716Ile
ENST00000675090.1:c.2053C>A	ENSP00000501833.1:p.Leu685Ile
ENST00000675399.1:c.2053C>A	ENSP00000501932.1:p.Leu685Ile
ENST00000676421.1:c.2062C>A	ENSP00000502322.1:p.Leu688Ile
ENST00000263604.5:c.2206C>A	ENSP00000263604.4:p.Leu736Ile
ENST00000371757.6:c.2305C>A	ENSP00000360822.2:p.Leu769Ile
ENST00000460750.5:c.*1915C>A	ENSP00000418777.1:n.*1915C>A
ENST00000486577.6:c.2188C>A	ENSP00000417578.3:p.Leu730Ile
ENST00000487664.5:c.2305C>A	ENSP00000417851.2:p.Leu769Ile
ENST00000488444.6:c.2248C>A	ENSP00000419007.3:p.Leu750Ile
ENST00000490355.6:c.2242C>A	ENSP00000418003.3:p.Leu748Ile
ENST00000490363.3:n.2124C>A
ENST00000491806.6:c.2248C>A	ENSP00000419086.3:p.Leu750Ile
ENST00000628528.2:c.2170C>A	ENSP00000486374.1:p.Leu724Ile
ENST00000630792.2:c.2140C>A	ENSP00000486486.1:p.Leu714Ile
ENST00000631073.2:c.2248C>A	ENSP00000486130.1:p.Leu750Ile
ENST00000631193.1:c.154C>A	ENSP00000486830.1:p.Leu52Ile
NM_001272003.1:c.2170C>A	NP_001258932.1:p.Leu724Ile
NM_020822.2:c.2305C>A	NP_065873.2:p.Leu769Ile
XM_011518877.1:c.2440C>A	XP_011517179.1:p.Leu814Ile
XM_011518878.1:c.2449C>A	XP_011517180.1:p.Leu817Ile
XM_011518879.1:c.2440C>A	XP_011517181.1:p.Leu814Ile
XM_011518880.1:c.2206C>A	XP_011517182.1:p.Leu736Ile
XM_011518881.1:c.1795C>A	XP_011517183.1:p.Leu599Ile
XM_011518877.3:c.2440C>A	XP_011517179.1:p.Leu814Ile
XM_011518878.3:c.2449C>A	XP_011517180.1:p.Leu817Ile
XM_011518879.3:c.2440C>A	XP_011517181.1:p.Leu814Ile
XM_011518881.3:c.1795C>A	XP_011517183.1:p.Leu599Ile
XM_017014931.1:c.2239C>A	XP_016870420.1:p.Leu747Ile
XM_017014932.1:c.2062C>A	XP_016870421.1:p.Leu688Ile
XM_017014933.1:c.1795C>A	XP_016870422.1:p.Leu599Ile
XM_024447617.1:c.1795C>A	XP_024303385.1:p.Leu599Ile
XM_024447618.1:c.1795C>A	XP_024303386.1:p.Leu599Ile
NM_020822.3:c.2305C>A MANE Select	NP_065873.2:p.Leu769Ile
NM_001272003.2:c.2170C>A	NP_001258932.1:p.Leu724Ile