Canonical Allele Identifier: CA467693221

Gene: KCNT1 SOHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135702348C>T , CM000671.2:g.135702348C>T	GRCh38
NC_000009.11:g.138594194C>T , CM000671.1:g.138594194C>T	GRCh37
NC_000009.10:g.137734015C>T	NCBI36
NG_033070.1:g.5164C>T
NG_033784.1:g.2181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.90C>T (KCNT1) MANE Select	ENSP00000360822.2:p.Asp30=
ENST00000636274.1:n.18C>T (KCNT1)
ENST00000674066.1:n.884+1132G>A (SOHLH1)
ENST00000371757.6:c.90C>T (KCNT1)	ENSP00000360822.2:p.Asp30=
ENST00000460750.5:c.90C>T (KCNT1)	ENSP00000418777.1:p.Asp30=
ENST00000487664.5:c.90C>T (KCNT1)	ENSP00000417851.2:p.Asp30=
ENST00000628528.2:c.90C>T (KCNT1)	ENSP00000486374.1:p.Asp30=
NM_001272003.1:c.90C>T (KCNT1)	NP_001258932.1:p.Asp30=
NM_020822.2:c.90C>T (KCNT1)	NP_065873.2:p.Asp30=
XR_930435.1:n.1501G>A
XR_930436.1:n.1337G>A
NM_020822.3:c.90C>T (KCNT1) MANE Select	NP_065873.2:p.Asp30=
NM_001272003.2:c.90C>T (KCNT1)	NP_001258932.1:p.Asp30=