Canonical Allele Identifier: CA467698800

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667228G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775382G>C , CM000671.2:g.135775382G>C	GRCh38
NC_000009.11:g.138667228G>C , CM000671.1:g.138667228G>C	GRCh37
NC_000009.10:g.137807049G>C	NCBI36
NG_033070.1:g.78198G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2316G>C MANE Select	ENSP00000360822.2:p.Val772=
ENST00000674572.1:c.2157G>C	ENSP00000501742.1:p.Val719=
ENST00000675090.1:c.2064G>C	ENSP00000501833.1:p.Val688=
ENST00000675399.1:c.2064G>C	ENSP00000501932.1:p.Val688=
ENST00000676421.1:c.2073G>C	ENSP00000502322.1:p.Val691=
ENST00000263604.5:c.2217G>C	ENSP00000263604.4:p.Val739=
ENST00000371757.6:c.2316G>C	ENSP00000360822.2:p.Val772=
ENST00000460750.5:c.*1926G>C	ENSP00000418777.1:n.*1926G>C
ENST00000486577.6:c.2199G>C	ENSP00000417578.3:p.Val733=
ENST00000487664.5:c.2316G>C	ENSP00000417851.2:p.Val772=
ENST00000488444.6:c.2259G>C	ENSP00000419007.3:p.Val753=
ENST00000490355.6:c.2253G>C	ENSP00000418003.3:p.Val751=
ENST00000490363.3:n.2135G>C
ENST00000491806.6:c.2259G>C	ENSP00000419086.3:p.Val753=
ENST00000628528.2:c.2181G>C	ENSP00000486374.1:p.Val727=
ENST00000630792.2:c.2151G>C	ENSP00000486486.1:p.Val717=
ENST00000631073.2:c.2259G>C	ENSP00000486130.1:p.Val753=
ENST00000631193.1:c.165G>C	ENSP00000486830.1:p.Val55=
NM_001272003.1:c.2181G>C	NP_001258932.1:p.Val727=
NM_020822.2:c.2316G>C	NP_065873.2:p.Val772=
XM_011518877.1:c.2451G>C	XP_011517179.1:p.Val817=
XM_011518878.1:c.2460G>C	XP_011517180.1:p.Val820=
XM_011518879.1:c.2451G>C	XP_011517181.1:p.Val817=
XM_011518880.1:c.2217G>C	XP_011517182.1:p.Val739=
XM_011518881.1:c.1806G>C	XP_011517183.1:p.Val602=
XM_011518877.3:c.2451G>C	XP_011517179.1:p.Val817=
XM_011518878.3:c.2460G>C	XP_011517180.1:p.Val820=
XM_011518879.3:c.2451G>C	XP_011517181.1:p.Val817=
XM_011518881.3:c.1806G>C	XP_011517183.1:p.Val602=
XM_017014931.1:c.2250G>C	XP_016870420.1:p.Val750=
XM_017014932.1:c.2073G>C	XP_016870421.1:p.Val691=
XM_017014933.1:c.1806G>C	XP_016870422.1:p.Val602=
XM_024447617.1:c.1806G>C	XP_024303385.1:p.Val602=
XM_024447618.1:c.1806G>C	XP_024303386.1:p.Val602=
NM_020822.3:c.2316G>C MANE Select	NP_065873.2:p.Val772=
NM_001272003.2:c.2181G>C	NP_001258932.1:p.Val727=