Canonical Allele Identifier: CA375493287

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135714628G>A , CM000671.2:g.135714628G>A	GRCh38
NC_000009.11:g.138606474G>A , CM000671.1:g.138606474G>A	GRCh37
NC_000009.10:g.137746295G>A	NCBI36
NG_033070.1:g.17444G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.162G>A MANE Select	ENSP00000360822.2:p.Met54Ile
ENST00000674572.1:c.3G>A	ENSP00000501742.1:p.Met1Ile
ENST00000371757.6:c.162G>A	ENSP00000360822.2:p.Met54Ile
ENST00000460750.5:c.162G>A	ENSP00000418777.1:p.Met54Ile
ENST00000473941.5:c.3G>A	ENSP00000420764.1:p.Met1Ile
ENST00000486577.6:c.3G>A	ENSP00000417578.3:p.Met1Ile
ENST00000487664.5:c.162G>A	ENSP00000417851.2:p.Met54Ile
ENST00000628528.2:c.110+12260G>A	ENSP00000486374.1:n.110+12260G>A
ENST00000630792.2:c.3G>A	ENSP00000486486.1:p.Met1Ile
NM_001272003.1:c.110+12260G>A	NP_001258932.1:n.110+12260G>A
NM_020822.2:c.162G>A	NP_065873.2:p.Met54Ile
XM_011518877.1:c.297G>A	XP_011517179.1:p.Met99Ile
XM_011518878.1:c.297G>A	XP_011517180.1:p.Met99Ile
XM_011518879.1:c.297G>A	XP_011517181.1:p.Met99Ile
XM_011518877.3:c.297G>A	XP_011517179.1:p.Met99Ile
XM_011518878.3:c.297G>A	XP_011517180.1:p.Met99Ile
XM_011518879.3:c.297G>A	XP_011517181.1:p.Met99Ile
NM_020822.3:c.162G>A MANE Select	NP_065873.2:p.Met54Ile
NM_001272003.2:c.110+12260G>A	NP_001258932.1:n.110+12260G>A