Canonical Allele Identifier: CA467698769

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667210G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775364G>T , CM000671.2:g.135775364G>T	GRCh38
NC_000009.11:g.138667210G>T , CM000671.1:g.138667210G>T	GRCh37
NC_000009.10:g.137807031G>T	NCBI36
NG_033070.1:g.78180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2298G>T MANE Select	ENSP00000360822.2:p.Leu766=
ENST00000674572.1:c.2139G>T	ENSP00000501742.1:p.Leu713=
ENST00000675090.1:c.2046G>T	ENSP00000501833.1:p.Leu682=
ENST00000675399.1:c.2046G>T	ENSP00000501932.1:p.Leu682=
ENST00000676421.1:c.2055G>T	ENSP00000502322.1:p.Leu685=
ENST00000263604.5:c.2199G>T	ENSP00000263604.4:p.Leu733=
ENST00000371757.6:c.2298G>T	ENSP00000360822.2:p.Leu766=
ENST00000460750.5:c.*1908G>T	ENSP00000418777.1:n.*1908G>T
ENST00000486577.6:c.2181G>T	ENSP00000417578.3:p.Leu727=
ENST00000487664.5:c.2298G>T	ENSP00000417851.2:p.Leu766=
ENST00000488444.6:c.2241G>T	ENSP00000419007.3:p.Leu747=
ENST00000490355.6:c.2235G>T	ENSP00000418003.3:p.Leu745=
ENST00000490363.3:n.2117G>T
ENST00000491806.6:c.2241G>T	ENSP00000419086.3:p.Leu747=
ENST00000628528.2:c.2163G>T	ENSP00000486374.1:p.Leu721=
ENST00000630792.2:c.2133G>T	ENSP00000486486.1:p.Leu711=
ENST00000631073.2:c.2241G>T	ENSP00000486130.1:p.Leu747=
ENST00000631193.1:c.147G>T	ENSP00000486830.1:p.Leu49=
NM_001272003.1:c.2163G>T	NP_001258932.1:p.Leu721=
NM_020822.2:c.2298G>T	NP_065873.2:p.Leu766=
XM_011518877.1:c.2433G>T	XP_011517179.1:p.Leu811=
XM_011518878.1:c.2442G>T	XP_011517180.1:p.Leu814=
XM_011518879.1:c.2433G>T	XP_011517181.1:p.Leu811=
XM_011518880.1:c.2199G>T	XP_011517182.1:p.Leu733=
XM_011518881.1:c.1788G>T	XP_011517183.1:p.Leu596=
XM_011518877.3:c.2433G>T	XP_011517179.1:p.Leu811=
XM_011518878.3:c.2442G>T	XP_011517180.1:p.Leu814=
XM_011518879.3:c.2433G>T	XP_011517181.1:p.Leu811=
XM_011518881.3:c.1788G>T	XP_011517183.1:p.Leu596=
XM_017014931.1:c.2232G>T	XP_016870420.1:p.Leu744=
XM_017014932.1:c.2055G>T	XP_016870421.1:p.Leu685=
XM_017014933.1:c.1788G>T	XP_016870422.1:p.Leu596=
XM_024447617.1:c.1788G>T	XP_024303385.1:p.Leu596=
XM_024447618.1:c.1788G>T	XP_024303386.1:p.Leu596=
NM_020822.3:c.2298G>T MANE Select	NP_065873.2:p.Leu766=
NM_001272003.2:c.2163G>T	NP_001258932.1:p.Leu721=