Canonical Allele Identifier: CA5326487

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135755151G>A , CM000671.2:g.135755151G>A	GRCh38
NC_000009.11:g.138646997G>A , CM000671.1:g.138646997G>A	GRCh37
NC_000009.10:g.137786818G>A	NCBI36
NG_033070.1:g.57967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.522G>A MANE Select	ENSP00000360822.2:p.Met174Ile
ENST00000674572.1:c.363G>A	ENSP00000501742.1:p.Met121Ile
ENST00000675090.1:c.270G>A	ENSP00000501833.1:p.Met90Ile
ENST00000675399.1:c.270G>A	ENSP00000501932.1:p.Met90Ile
ENST00000676421.1:c.270G>A	ENSP00000502322.1:p.Met90Ile
ENST00000263604.5:c.423G>A	ENSP00000263604.4:p.Met141Ile
ENST00000371757.6:c.522G>A	ENSP00000360822.2:p.Met174Ile
ENST00000460750.5:c.*132G>A	ENSP00000418777.1:n.*132G>A
ENST00000473941.5:c.363G>A	ENSP00000420764.1:p.Met121Ile
ENST00000486577.6:c.405G>A	ENSP00000417578.3:p.Met135Ile
ENST00000487664.5:c.522G>A	ENSP00000417851.2:p.Met174Ile
ENST00000488444.6:c.465G>A	ENSP00000419007.3:p.Met155Ile
ENST00000490355.6:c.465G>A	ENSP00000418003.3:p.Met155Ile
ENST00000490363.3:n.274G>A
ENST00000491806.6:c.465G>A	ENSP00000419086.3:p.Met155Ile
ENST00000628528.2:c.378G>A	ENSP00000486374.1:p.Met126Ile
ENST00000630792.2:c.363G>A	ENSP00000486486.1:p.Met121Ile
ENST00000631073.2:c.465G>A	ENSP00000486130.1:p.Met155Ile
NM_001272003.1:c.378G>A	NP_001258932.1:p.Met126Ile
NM_020822.2:c.522G>A	NP_065873.2:p.Met174Ile
XM_011518877.1:c.657G>A	XP_011517179.1:p.Met219Ile
XM_011518878.1:c.657G>A	XP_011517180.1:p.Met219Ile
XM_011518879.1:c.657G>A	XP_011517181.1:p.Met219Ile
XM_011518880.1:c.423G>A	XP_011517182.1:p.Met141Ile
XM_011518881.1:c.3G>A	XP_011517183.1:p.Met1Ile
XM_011518877.3:c.657G>A	XP_011517179.1:p.Met219Ile
XM_011518878.3:c.657G>A	XP_011517180.1:p.Met219Ile
XM_011518879.3:c.657G>A	XP_011517181.1:p.Met219Ile
XM_011518881.3:c.3G>A	XP_011517183.1:p.Met1Ile
XM_017014931.1:c.447G>A	XP_016870420.1:p.Met149Ile
XM_017014932.1:c.270G>A	XP_016870421.1:p.Met90Ile
XM_017014933.1:c.3G>A	XP_016870422.1:p.Met1Ile
XM_024447617.1:c.3G>A	XP_024303385.1:p.Met1Ile
XM_024447618.1:c.3G>A	XP_024303386.1:p.Met1Ile
NM_020822.3:c.522G>A MANE Select	NP_065873.2:p.Met174Ile
NM_001272003.2:c.378G>A	NP_001258932.1:p.Met126Ile