Canonical Allele Identifier: CA375492640

Gene: KCNT1 SOHLH1

Linked Data

• MyVariant Identifiers: chr9:g.138594191T>A (hg19) ; chr9:g.135702345T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135702345T>A , CM000671.2:g.135702345T>A	GRCh38
NC_000009.11:g.138594191T>A , CM000671.1:g.138594191T>A	GRCh37
NC_000009.10:g.137734012T>A	NCBI36
NG_033070.1:g.5161T>A
NG_033784.1:g.2184A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.87T>A (KCNT1) MANE Select	ENSP00000360822.2:p.Phe29Leu
ENST00000636274.1:n.15T>A (KCNT1)
ENST00000674066.1:n.884+1135A>T (SOHLH1)
ENST00000371757.6:c.87T>A (KCNT1)	ENSP00000360822.2:p.Phe29Leu
ENST00000460750.5:c.87T>A (KCNT1)	ENSP00000418777.1:p.Phe29Leu
ENST00000487664.5:c.87T>A (KCNT1)	ENSP00000417851.2:p.Phe29Leu
ENST00000628528.2:c.87T>A (KCNT1)	ENSP00000486374.1:p.Phe29Leu
NM_001272003.1:c.87T>A (KCNT1)	NP_001258932.1:p.Phe29Leu
NM_020822.2:c.87T>A (KCNT1)	NP_065873.2:p.Phe29Leu
XR_930435.1:n.1504A>T
XR_930436.1:n.1340A>T
NM_020822.3:c.87T>A (KCNT1) MANE Select	NP_065873.2:p.Phe29Leu
NM_001272003.2:c.87T>A (KCNT1)	NP_001258932.1:p.Phe29Leu