Canonical Allele Identifier: CA375501113

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657488C>G (hg19) ; chr9:g.135765642C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765642C>G , CM000671.2:g.135765642C>G	GRCh38
NC_000009.11:g.138657488C>G , CM000671.1:g.138657488C>G	GRCh37
NC_000009.10:g.137797309C>G	NCBI36
NG_033070.1:g.68458C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1219C>G MANE Select	ENSP00000360822.2:p.Leu407Val
ENST00000674572.1:c.1060C>G	ENSP00000501742.1:p.Leu354Val
ENST00000675090.1:c.967C>G	ENSP00000501833.1:p.Leu323Val
ENST00000675399.1:c.967C>G	ENSP00000501932.1:p.Leu323Val
ENST00000676421.1:c.976C>G	ENSP00000502322.1:p.Leu326Val
ENST00000263604.5:c.1120C>G	ENSP00000263604.4:p.Leu374Val
ENST00000371757.6:c.1219C>G	ENSP00000360822.2:p.Leu407Val
ENST00000460750.5:c.*829C>G	ENSP00000418777.1:n.*829C>G
ENST00000486577.6:c.1102C>G	ENSP00000417578.3:p.Leu368Val
ENST00000487664.5:c.1219C>G	ENSP00000417851.2:p.Leu407Val
ENST00000488444.6:c.1162C>G	ENSP00000419007.3:p.Leu388Val
ENST00000490355.6:c.1162C>G	ENSP00000418003.3:p.Leu388Val
ENST00000490363.3:n.1038C>G
ENST00000491806.6:c.1162C>G	ENSP00000419086.3:p.Leu388Val
ENST00000628528.2:c.1084C>G	ENSP00000486374.1:p.Leu362Val
ENST00000630792.2:c.1060C>G	ENSP00000486486.1:p.Leu354Val
ENST00000631073.2:c.1162C>G	ENSP00000486130.1:p.Leu388Val
NM_001272003.1:c.1084C>G	NP_001258932.1:p.Leu362Val
NM_020822.2:c.1219C>G	NP_065873.2:p.Leu407Val
XM_011518877.1:c.1354C>G	XP_011517179.1:p.Leu452Val
XM_011518878.1:c.1363C>G	XP_011517180.1:p.Leu455Val
XM_011518879.1:c.1354C>G	XP_011517181.1:p.Leu452Val
XM_011518880.1:c.1120C>G	XP_011517182.1:p.Leu374Val
XM_011518881.1:c.709C>G	XP_011517183.1:p.Leu237Val
XM_011518877.3:c.1354C>G	XP_011517179.1:p.Leu452Val
XM_011518878.3:c.1363C>G	XP_011517180.1:p.Leu455Val
XM_011518879.3:c.1354C>G	XP_011517181.1:p.Leu452Val
XM_011518881.3:c.709C>G	XP_011517183.1:p.Leu237Val
XM_017014931.1:c.1153C>G	XP_016870420.1:p.Leu385Val
XM_017014932.1:c.976C>G	XP_016870421.1:p.Leu326Val
XM_017014933.1:c.709C>G	XP_016870422.1:p.Leu237Val
XM_024447617.1:c.709C>G	XP_024303385.1:p.Leu237Val
XM_024447618.1:c.709C>G	XP_024303386.1:p.Leu237Val
NM_020822.3:c.1219C>G MANE Select	NP_065873.2:p.Leu407Val
NM_001272003.2:c.1084C>G	NP_001258932.1:p.Leu362Val