Canonical Allele Identifier: CA375493873

Gene: KCNT1

Linked Data

• COSMIC: COSM312225 ; COSM5658024
• MyVariant Identifiers: chr9:g.138683681C>G (hg19) ; chr9:g.135791835C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791835C>G , CM000671.2:g.135791835C>G	GRCh38
NC_000009.11:g.138683681C>G , CM000671.1:g.138683681C>G	GRCh37
NC_000009.10:g.137823502C>G	NCBI36
NG_033070.1:g.94651C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3541C>G MANE Select	ENSP00000360822.2:p.Leu1181Val
ENST00000674572.1:c.3445C>G	ENSP00000501742.1:p.Leu1149Val
ENST00000675090.1:c.3289C>G	ENSP00000501833.1:p.Leu1097Val
ENST00000675399.1:c.3352C>G	ENSP00000501932.1:p.Leu1118Val
ENST00000676421.1:c.3361C>G	ENSP00000502322.1:p.Leu1121Val
ENST00000263604.5:c.3505C>G	ENSP00000263604.4:p.Leu1169Val
ENST00000371757.6:c.3541C>G	ENSP00000360822.2:p.Leu1181Val
ENST00000460750.5:c.*3214C>G	ENSP00000418777.1:n.*3214C>G
ENST00000475008.1:n.2847C>G
ENST00000486577.6:c.3487C>G	ENSP00000417578.3:p.Leu1163Val
ENST00000487664.5:c.3604C>G	ENSP00000417851.2:p.Leu1202Val
ENST00000488444.6:c.3526C>G	ENSP00000419007.3:p.Leu1176Val
ENST00000490355.6:c.3541C>G	ENSP00000418003.3:p.Leu1181Val
ENST00000491806.6:c.3484C>G	ENSP00000419086.3:p.Leu1162Val
ENST00000628528.2:c.3469C>G	ENSP00000486374.1:p.Leu1157Val
ENST00000630792.2:c.3439C>G	ENSP00000486486.1:p.Leu1147Val
ENST00000631073.2:c.3547C>G	ENSP00000486130.1:p.Leu1183Val
NM_001272003.1:c.3469C>G	NP_001258932.1:p.Leu1157Val
NM_020822.2:c.3541C>G	NP_065873.2:p.Leu1181Val
XM_011518877.1:c.3739C>G	XP_011517179.1:p.Leu1247Val
XM_011518878.1:c.3685C>G	XP_011517180.1:p.Leu1229Val
XM_011518879.1:c.3676C>G	XP_011517181.1:p.Leu1226Val
XM_011518880.1:c.3505C>G	XP_011517182.1:p.Leu1169Val
XM_011518881.1:c.3094C>G	XP_011517183.1:p.Leu1032Val
XM_011518877.3:c.3739C>G	XP_011517179.1:p.Leu1247Val
XM_011518878.3:c.3685C>G	XP_011517180.1:p.Leu1229Val
XM_011518879.3:c.3676C>G	XP_011517181.1:p.Leu1226Val
XM_011518881.3:c.3094C>G	XP_011517183.1:p.Leu1032Val
XM_017014931.1:c.3538C>G	XP_016870420.1:p.Leu1180Val
XM_017014932.1:c.3361C>G	XP_016870421.1:p.Leu1121Val
XM_017014933.1:c.3094C>G	XP_016870422.1:p.Leu1032Val
XM_024447617.1:c.3094C>G	XP_024303385.1:p.Leu1032Val
XM_024447618.1:c.3094C>G	XP_024303386.1:p.Leu1032Val
NM_020822.3:c.3541C>G MANE Select	NP_065873.2:p.Leu1181Val
NM_001272003.2:c.3469C>G	NP_001258932.1:p.Leu1157Val