Canonical Allele Identifier: CA375501615

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657564T>A (hg19) ; chr9:g.135765718T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765718T>A , CM000671.2:g.135765718T>A	GRCh38
NC_000009.11:g.138657564T>A , CM000671.1:g.138657564T>A	GRCh37
NC_000009.10:g.137797385T>A	NCBI36
NG_033070.1:g.68534T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1295T>A MANE Select	ENSP00000360822.2:p.Leu432His
ENST00000636995.1:n.22T>A
ENST00000637798.1:n.34T>A
ENST00000674572.1:c.1136T>A	ENSP00000501742.1:p.Leu379His
ENST00000675090.1:c.1043T>A	ENSP00000501833.1:p.Leu348His
ENST00000675399.1:c.1043T>A	ENSP00000501932.1:p.Leu348His
ENST00000676421.1:c.1052T>A	ENSP00000502322.1:p.Leu351His
ENST00000263604.5:c.1196T>A	ENSP00000263604.4:p.Leu399His
ENST00000371757.6:c.1295T>A	ENSP00000360822.2:p.Leu432His
ENST00000460750.5:c.*905T>A	ENSP00000418777.1:n.*905T>A
ENST00000486577.6:c.1178T>A	ENSP00000417578.3:p.Leu393His
ENST00000487664.5:c.1295T>A	ENSP00000417851.2:p.Leu432His
ENST00000488444.6:c.1238T>A	ENSP00000419007.3:p.Leu413His
ENST00000490355.6:c.1238T>A	ENSP00000418003.3:p.Leu413His
ENST00000490363.3:n.1114T>A
ENST00000491806.6:c.1238T>A	ENSP00000419086.3:p.Leu413His
ENST00000628528.2:c.1160T>A	ENSP00000486374.1:p.Leu387His
ENST00000630792.2:c.1136T>A	ENSP00000486486.1:p.Leu379His
ENST00000631073.2:c.1238T>A	ENSP00000486130.1:p.Leu413His
NM_001272003.1:c.1160T>A	NP_001258932.1:p.Leu387His
NM_020822.2:c.1295T>A	NP_065873.2:p.Leu432His
XM_011518877.1:c.1430T>A	XP_011517179.1:p.Leu477His
XM_011518878.1:c.1439T>A	XP_011517180.1:p.Leu480His
XM_011518879.1:c.1430T>A	XP_011517181.1:p.Leu477His
XM_011518880.1:c.1196T>A	XP_011517182.1:p.Leu399His
XM_011518881.1:c.785T>A	XP_011517183.1:p.Leu262His
XM_011518877.3:c.1430T>A	XP_011517179.1:p.Leu477His
XM_011518878.3:c.1439T>A	XP_011517180.1:p.Leu480His
XM_011518879.3:c.1430T>A	XP_011517181.1:p.Leu477His
XM_011518881.3:c.785T>A	XP_011517183.1:p.Leu262His
XM_017014931.1:c.1229T>A	XP_016870420.1:p.Leu410His
XM_017014932.1:c.1052T>A	XP_016870421.1:p.Leu351His
XM_017014933.1:c.785T>A	XP_016870422.1:p.Leu262His
XM_024447617.1:c.785T>A	XP_024303385.1:p.Leu262His
XM_024447618.1:c.785T>A	XP_024303386.1:p.Leu262His
NM_020822.3:c.1295T>A MANE Select	NP_065873.2:p.Leu432His
NM_001272003.2:c.1160T>A	NP_001258932.1:p.Leu387His