Canonical Allele Identifier: CA5326286

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135714596G>T , CM000671.2:g.135714596G>T	GRCh38
NC_000009.11:g.138606442G>T , CM000671.1:g.138606442G>T	GRCh37
NC_000009.10:g.137746263G>T	NCBI36
NG_033070.1:g.17412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.130G>T MANE Select	ENSP00000360822.2:p.Gly44Cys
ENST00000636613.1:n.86G>T
ENST00000674572.1:c.-30G>T	ENSP00000501742.1:n.-30G>T
ENST00000371757.6:c.130G>T	ENSP00000360822.2:p.Gly44Cys
ENST00000460750.5:c.130G>T	ENSP00000418777.1:p.Gly44Cys
ENST00000473941.5:c.-30G>T	ENSP00000420764.1:n.-30G>T
ENST00000486577.6:c.-30G>T	ENSP00000417578.3:n.-30G>T
ENST00000487664.5:c.130G>T	ENSP00000417851.2:p.Gly44Cys
ENST00000628528.2:c.110+12228G>T	ENSP00000486374.1:n.110+12228G>T
NM_001272003.1:c.110+12228G>T	NP_001258932.1:n.110+12228G>T
NM_020822.2:c.130G>T	NP_065873.2:p.Gly44Cys
XM_011518877.1:c.265G>T	XP_011517179.1:p.Gly89Cys
XM_011518878.1:c.265G>T	XP_011517180.1:p.Gly89Cys
XM_011518879.1:c.265G>T	XP_011517181.1:p.Gly89Cys
XM_011518877.3:c.265G>T	XP_011517179.1:p.Gly89Cys
XM_011518878.3:c.265G>T	XP_011517180.1:p.Gly89Cys
XM_011518879.3:c.265G>T	XP_011517181.1:p.Gly89Cys
NM_020822.3:c.130G>T MANE Select	NP_065873.2:p.Gly44Cys
NM_001272003.2:c.110+12228G>T	NP_001258932.1:n.110+12228G>T