Canonical Allele Identifier: CA5326232

Gene: KCNT1 SOHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135702308C>T , CM000671.2:g.135702308C>T	GRCh38
NC_000009.11:g.138594154C>T , CM000671.1:g.138594154C>T	GRCh37
NC_000009.10:g.137733975C>T	NCBI36
NG_033070.1:g.5124C>T
NG_033784.1:g.2221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.50C>T (KCNT1) MANE Select	ENSP00000360822.2:p.Ala17Val
ENST00000674066.1:n.884+1172G>A (SOHLH1)
ENST00000371757.6:c.50C>T (KCNT1)	ENSP00000360822.2:p.Ala17Val
ENST00000460750.5:c.50C>T (KCNT1)	ENSP00000418777.1:p.Ala17Val
ENST00000487664.5:c.50C>T (KCNT1)	ENSP00000417851.2:p.Ala17Val
ENST00000628528.2:c.50C>T (KCNT1)	ENSP00000486374.1:p.Ala17Val
NM_001272003.1:c.50C>T (KCNT1)	NP_001258932.1:p.Ala17Val
NM_020822.2:c.50C>T (KCNT1)	NP_065873.2:p.Ala17Val
XR_930435.1:n.1541G>A
XR_930436.1:n.1377G>A
NM_020822.3:c.50C>T (KCNT1) MANE Select	NP_065873.2:p.Ala17Val
NM_001272003.2:c.50C>T (KCNT1)	NP_001258932.1:p.Ala17Val