Canonical Allele Identifier: CA375506503

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662214A>T (hg19) ; chr9:g.135770368A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770368A>T , CM000671.2:g.135770368A>T	GRCh38
NC_000009.11:g.138662214A>T , CM000671.1:g.138662214A>T	GRCh37
NC_000009.10:g.137802035A>T	NCBI36
NG_033070.1:g.73184A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1690A>T MANE Select	ENSP00000360822.2:p.Ile564Phe
ENST00000674572.1:c.1531A>T	ENSP00000501742.1:p.Ile511Phe
ENST00000675090.1:c.1438A>T	ENSP00000501833.1:p.Ile480Phe
ENST00000675399.1:c.1438A>T	ENSP00000501932.1:p.Ile480Phe
ENST00000676421.1:c.1447A>T	ENSP00000502322.1:p.Ile483Phe
ENST00000263604.5:c.1591A>T	ENSP00000263604.4:p.Ile531Phe
ENST00000371757.6:c.1690A>T	ENSP00000360822.2:p.Ile564Phe
ENST00000460750.5:c.*1300A>T	ENSP00000418777.1:n.*1300A>T
ENST00000486577.6:c.1573A>T	ENSP00000417578.3:p.Ile525Phe
ENST00000487664.5:c.1690A>T	ENSP00000417851.2:p.Ile564Phe
ENST00000488444.6:c.1633A>T	ENSP00000419007.3:p.Ile545Phe
ENST00000490355.6:c.1633A>T	ENSP00000418003.3:p.Ile545Phe
ENST00000490363.3:n.1509A>T
ENST00000491806.6:c.1633A>T	ENSP00000419086.3:p.Ile545Phe
ENST00000628528.2:c.1555A>T	ENSP00000486374.1:p.Ile519Phe
ENST00000630792.2:c.1531A>T	ENSP00000486486.1:p.Ile511Phe
ENST00000631073.2:c.1633A>T	ENSP00000486130.1:p.Ile545Phe
NM_001272003.1:c.1555A>T	NP_001258932.1:p.Ile519Phe
NM_020822.2:c.1690A>T	NP_065873.2:p.Ile564Phe
XM_011518877.1:c.1825A>T	XP_011517179.1:p.Ile609Phe
XM_011518878.1:c.1834A>T	XP_011517180.1:p.Ile612Phe
XM_011518879.1:c.1825A>T	XP_011517181.1:p.Ile609Phe
XM_011518880.1:c.1591A>T	XP_011517182.1:p.Ile531Phe
XM_011518881.1:c.1180A>T	XP_011517183.1:p.Ile394Phe
XM_011518877.3:c.1825A>T	XP_011517179.1:p.Ile609Phe
XM_011518878.3:c.1834A>T	XP_011517180.1:p.Ile612Phe
XM_011518879.3:c.1825A>T	XP_011517181.1:p.Ile609Phe
XM_011518881.3:c.1180A>T	XP_011517183.1:p.Ile394Phe
XM_017014931.1:c.1624A>T	XP_016870420.1:p.Ile542Phe
XM_017014932.1:c.1447A>T	XP_016870421.1:p.Ile483Phe
XM_017014933.1:c.1180A>T	XP_016870422.1:p.Ile394Phe
XM_024447617.1:c.1180A>T	XP_024303385.1:p.Ile394Phe
XM_024447618.1:c.1180A>T	XP_024303386.1:p.Ile394Phe
NM_020822.3:c.1690A>T MANE Select	NP_065873.2:p.Ile564Phe
NM_001272003.2:c.1555A>T	NP_001258932.1:p.Ile519Phe