Canonical Allele Identifier: CA5326317

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135714740T>C , CM000671.2:g.135714740T>C	GRCh38
NC_000009.11:g.138606586T>C , CM000671.1:g.138606586T>C	GRCh37
NC_000009.10:g.137746407T>C	NCBI36
NG_033070.1:g.17556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.254+20T>C MANE Select	ENSP00000360822.2:n.254+20T>C
ENST00000674572.1:c.95+20T>C	ENSP00000501742.1:n.95+20T>C
ENST00000371757.6:c.254+20T>C	ENSP00000360822.2:n.254+20T>C
ENST00000460750.5:c.254+20T>C	ENSP00000418777.1:n.254+20T>C
ENST00000473941.5:c.95+20T>C	ENSP00000420764.1:n.95+20T>C
ENST00000486577.6:c.95+20T>C	ENSP00000417578.3:n.95+20T>C
ENST00000487664.5:c.254+20T>C	ENSP00000417851.2:n.254+20T>C
ENST00000628528.2:c.110+12372T>C	ENSP00000486374.1:n.110+12372T>C
ENST00000630792.2:c.95+20T>C	ENSP00000486486.1:n.95+20T>C
NM_001272003.1:c.110+12372T>C	NP_001258932.1:n.110+12372T>C
NM_020822.2:c.254+20T>C	NP_065873.2:n.254+20T>C
XM_011518877.1:c.389+20T>C	XP_011517179.1:n.389+20T>C
XM_011518878.1:c.389+20T>C	XP_011517180.1:n.389+20T>C
XM_011518879.1:c.389+20T>C	XP_011517181.1:n.389+20T>C
XM_011518877.3:c.389+20T>C	XP_011517179.1:n.389+20T>C
XM_011518878.3:c.389+20T>C	XP_011517180.1:n.389+20T>C
XM_011518879.3:c.389+20T>C	XP_011517181.1:n.389+20T>C
NM_020822.3:c.254+20T>C MANE Select	NP_065873.2:n.254+20T>C
NM_001272003.2:c.110+12372T>C	NP_001258932.1:n.110+12372T>C