Canonical Allele Identifier: CA375501364

Gene: KCNT1

Linked Data

• COSMIC: COSM4972688 ; COSM4972689
• MyVariant Identifiers: chr9:g.138657522G>C (hg19) ; chr9:g.135765676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765676G>C , CM000671.2:g.135765676G>C	GRCh38
NC_000009.11:g.138657522G>C , CM000671.1:g.138657522G>C	GRCh37
NC_000009.10:g.137797343G>C	NCBI36
NG_033070.1:g.68492G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1253G>C MANE Select	ENSP00000360822.2:p.Arg418Thr
ENST00000674572.1:c.1094G>C	ENSP00000501742.1:p.Arg365Thr
ENST00000675090.1:c.1001G>C	ENSP00000501833.1:p.Arg334Thr
ENST00000675399.1:c.1001G>C	ENSP00000501932.1:p.Arg334Thr
ENST00000676421.1:c.1010G>C	ENSP00000502322.1:p.Arg337Thr
ENST00000263604.5:c.1154G>C	ENSP00000263604.4:p.Arg385Thr
ENST00000371757.6:c.1253G>C	ENSP00000360822.2:p.Arg418Thr
ENST00000460750.5:c.*863G>C	ENSP00000418777.1:n.*863G>C
ENST00000486577.6:c.1136G>C	ENSP00000417578.3:p.Arg379Thr
ENST00000487664.5:c.1253G>C	ENSP00000417851.2:p.Arg418Thr
ENST00000488444.6:c.1196G>C	ENSP00000419007.3:p.Arg399Thr
ENST00000490355.6:c.1196G>C	ENSP00000418003.3:p.Arg399Thr
ENST00000490363.3:n.1072G>C
ENST00000491806.6:c.1196G>C	ENSP00000419086.3:p.Arg399Thr
ENST00000628528.2:c.1118G>C	ENSP00000486374.1:p.Arg373Thr
ENST00000630792.2:c.1094G>C	ENSP00000486486.1:p.Arg365Thr
ENST00000631073.2:c.1196G>C	ENSP00000486130.1:p.Arg399Thr
NM_001272003.1:c.1118G>C	NP_001258932.1:p.Arg373Thr
NM_020822.2:c.1253G>C	NP_065873.2:p.Arg418Thr
XM_011518877.1:c.1388G>C	XP_011517179.1:p.Arg463Thr
XM_011518878.1:c.1397G>C	XP_011517180.1:p.Arg466Thr
XM_011518879.1:c.1388G>C	XP_011517181.1:p.Arg463Thr
XM_011518880.1:c.1154G>C	XP_011517182.1:p.Arg385Thr
XM_011518881.1:c.743G>C	XP_011517183.1:p.Arg248Thr
XM_011518877.3:c.1388G>C	XP_011517179.1:p.Arg463Thr
XM_011518878.3:c.1397G>C	XP_011517180.1:p.Arg466Thr
XM_011518879.3:c.1388G>C	XP_011517181.1:p.Arg463Thr
XM_011518881.3:c.743G>C	XP_011517183.1:p.Arg248Thr
XM_017014931.1:c.1187G>C	XP_016870420.1:p.Arg396Thr
XM_017014932.1:c.1010G>C	XP_016870421.1:p.Arg337Thr
XM_017014933.1:c.743G>C	XP_016870422.1:p.Arg248Thr
XM_024447617.1:c.743G>C	XP_024303385.1:p.Arg248Thr
XM_024447618.1:c.743G>C	XP_024303386.1:p.Arg248Thr
NM_020822.3:c.1253G>C MANE Select	NP_065873.2:p.Arg418Thr
NM_001272003.2:c.1118G>C	NP_001258932.1:p.Arg373Thr