Canonical Allele Identifier: CA375508426

Gene: KCNT1

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770972A>C , CM000671.2:g.135770972A>C	GRCh38
NC_000009.11:g.138662818A>C , CM000671.1:g.138662818A>C	GRCh37
NC_000009.10:g.137802639A>C	NCBI36
NG_033070.1:g.73788A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1885A>C MANE Select	ENSP00000360822.2:p.Lys629Gln
ENST00000674572.1:c.1726A>C	ENSP00000501742.1:p.Lys576Gln
ENST00000675090.1:c.1633A>C	ENSP00000501833.1:p.Lys545Gln
ENST00000675399.1:c.1633A>C	ENSP00000501932.1:p.Lys545Gln
ENST00000676421.1:c.1642A>C	ENSP00000502322.1:p.Lys548Gln
ENST00000263604.5:c.1786A>C	ENSP00000263604.4:p.Lys596Gln
ENST00000371757.6:c.1885A>C	ENSP00000360822.2:p.Lys629Gln
ENST00000460750.5:c.*1495A>C	ENSP00000418777.1:n.*1495A>C
ENST00000486577.6:c.1768A>C	ENSP00000417578.3:p.Lys590Gln
ENST00000487664.5:c.1885A>C	ENSP00000417851.2:p.Lys629Gln
ENST00000488444.6:c.1828A>C	ENSP00000419007.3:p.Lys610Gln
ENST00000490355.6:c.1828A>C	ENSP00000418003.3:p.Lys610Gln
ENST00000490363.3:n.1704A>C
ENST00000491806.6:c.1828A>C	ENSP00000419086.3:p.Lys610Gln
ENST00000628528.2:c.1750A>C	ENSP00000486374.1:p.Lys584Gln
ENST00000630792.2:c.1726A>C	ENSP00000486486.1:p.Lys576Gln
ENST00000631073.2:c.1828A>C	ENSP00000486130.1:p.Lys610Gln
NM_001272003.1:c.1750A>C	NP_001258932.1:p.Lys584Gln
NM_020822.2:c.1885A>C	NP_065873.2:p.Lys629Gln
XM_011518877.1:c.2020A>C	XP_011517179.1:p.Lys674Gln
XM_011518878.1:c.2029A>C	XP_011517180.1:p.Lys677Gln
XM_011518879.1:c.2020A>C	XP_011517181.1:p.Lys674Gln
XM_011518880.1:c.1786A>C	XP_011517182.1:p.Lys596Gln
XM_011518881.1:c.1375A>C	XP_011517183.1:p.Lys459Gln
XM_011518877.3:c.2020A>C	XP_011517179.1:p.Lys674Gln
XM_011518878.3:c.2029A>C	XP_011517180.1:p.Lys677Gln
XM_011518879.3:c.2020A>C	XP_011517181.1:p.Lys674Gln
XM_011518881.3:c.1375A>C	XP_011517183.1:p.Lys459Gln
XM_017014931.1:c.1819A>C	XP_016870420.1:p.Lys607Gln
XM_017014932.1:c.1642A>C	XP_016870421.1:p.Lys548Gln
XM_017014933.1:c.1375A>C	XP_016870422.1:p.Lys459Gln
XM_024447617.1:c.1375A>C	XP_024303385.1:p.Lys459Gln
XM_024447618.1:c.1375A>C	XP_024303386.1:p.Lys459Gln
NM_020822.3:c.1885A>C MANE Select	NP_065873.2:p.Lys629Gln
NM_001272003.2:c.1750A>C	NP_001258932.1:p.Lys584Gln