Canonical Allele Identifier: CA375506689

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662246G>T (hg19) ; chr9:g.135770400G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770400G>T , CM000671.2:g.135770400G>T	GRCh38
NC_000009.11:g.138662246G>T , CM000671.1:g.138662246G>T	GRCh37
NC_000009.10:g.137802067G>T	NCBI36
NG_033070.1:g.73216G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1722G>T MANE Select	ENSP00000360822.2:p.Glu574Asp
ENST00000674572.1:c.1563G>T	ENSP00000501742.1:p.Glu521Asp
ENST00000675090.1:c.1470G>T	ENSP00000501833.1:p.Glu490Asp
ENST00000675399.1:c.1470G>T	ENSP00000501932.1:p.Glu490Asp
ENST00000676421.1:c.1479G>T	ENSP00000502322.1:p.Glu493Asp
ENST00000263604.5:c.1623G>T	ENSP00000263604.4:p.Glu541Asp
ENST00000371757.6:c.1722G>T	ENSP00000360822.2:p.Glu574Asp
ENST00000460750.5:c.*1332G>T	ENSP00000418777.1:n.*1332G>T
ENST00000486577.6:c.1605G>T	ENSP00000417578.3:p.Glu535Asp
ENST00000487664.5:c.1722G>T	ENSP00000417851.2:p.Glu574Asp
ENST00000488444.6:c.1665G>T	ENSP00000419007.3:p.Glu555Asp
ENST00000490355.6:c.1665G>T	ENSP00000418003.3:p.Glu555Asp
ENST00000490363.3:n.1541G>T
ENST00000491806.6:c.1665G>T	ENSP00000419086.3:p.Glu555Asp
ENST00000628528.2:c.1587G>T	ENSP00000486374.1:p.Glu529Asp
ENST00000630792.2:c.1563G>T	ENSP00000486486.1:p.Glu521Asp
ENST00000631073.2:c.1665G>T	ENSP00000486130.1:p.Glu555Asp
NM_001272003.1:c.1587G>T	NP_001258932.1:p.Glu529Asp
NM_020822.2:c.1722G>T	NP_065873.2:p.Glu574Asp
XM_011518877.1:c.1857G>T	XP_011517179.1:p.Glu619Asp
XM_011518878.1:c.1866G>T	XP_011517180.1:p.Glu622Asp
XM_011518879.1:c.1857G>T	XP_011517181.1:p.Glu619Asp
XM_011518880.1:c.1623G>T	XP_011517182.1:p.Glu541Asp
XM_011518881.1:c.1212G>T	XP_011517183.1:p.Glu404Asp
XM_011518877.3:c.1857G>T	XP_011517179.1:p.Glu619Asp
XM_011518878.3:c.1866G>T	XP_011517180.1:p.Glu622Asp
XM_011518879.3:c.1857G>T	XP_011517181.1:p.Glu619Asp
XM_011518881.3:c.1212G>T	XP_011517183.1:p.Glu404Asp
XM_017014931.1:c.1656G>T	XP_016870420.1:p.Glu552Asp
XM_017014932.1:c.1479G>T	XP_016870421.1:p.Glu493Asp
XM_017014933.1:c.1212G>T	XP_016870422.1:p.Glu404Asp
XM_024447617.1:c.1212G>T	XP_024303385.1:p.Glu404Asp
XM_024447618.1:c.1212G>T	XP_024303386.1:p.Glu404Asp
NM_020822.3:c.1722G>T MANE Select	NP_065873.2:p.Glu574Asp
NM_001272003.2:c.1587G>T	NP_001258932.1:p.Glu529Asp