Canonical Allele Identifier: CA375492513

Gene: KCNT1 SOHLH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135702274G>C , CM000671.2:g.135702274G>C	GRCh38
NC_000009.11:g.138594120G>C , CM000671.1:g.138594120G>C	GRCh37
NC_000009.10:g.137733941G>C	NCBI36
NG_033070.1:g.5090G>C
NG_033784.1:g.2255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.16G>C (KCNT1) MANE Select	ENSP00000360822.2:p.Gly6Arg
ENST00000674066.1:n.885-1148C>G (SOHLH1)
ENST00000371757.6:c.16G>C (KCNT1)	ENSP00000360822.2:p.Gly6Arg
ENST00000460750.5:c.16G>C (KCNT1)	ENSP00000418777.1:p.Gly6Arg
ENST00000487664.5:c.16G>C (KCNT1)	ENSP00000417851.2:p.Gly6Arg
ENST00000628528.2:c.16G>C (KCNT1)	ENSP00000486374.1:p.Gly6Arg
NM_001272003.1:c.16G>C (KCNT1)	NP_001258932.1:p.Gly6Arg
NM_020822.2:c.16G>C (KCNT1)	NP_065873.2:p.Gly6Arg
XR_930435.1:n.1575C>G
XR_930436.1:n.1411C>G
NM_020822.3:c.16G>C (KCNT1) MANE Select	NP_065873.2:p.Gly6Arg
NM_001272003.2:c.16G>C (KCNT1)	NP_001258932.1:p.Gly6Arg