Canonical Allele Identifier: CA375494745

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641971G>C (hg19) ; chr9:g.135750125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750125G>C , CM000671.2:g.135750125G>C	GRCh38
NC_000009.11:g.138641971G>C , CM000671.1:g.138641971G>C	GRCh37
NC_000009.10:g.137781792G>C	NCBI36
NG_033070.1:g.52941G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.282G>C MANE Select	ENSP00000360822.2:p.Glu94Asp
ENST00000637018.1:n.87G>C
ENST00000638123.1:n.17G>C
ENST00000674572.1:c.123G>C	ENSP00000501742.1:p.Glu41Asp
ENST00000675090.1:c.30G>C	ENSP00000501833.1:p.Glu10Asp
ENST00000675399.1:c.30G>C	ENSP00000501932.1:p.Glu10Asp
ENST00000676421.1:c.30G>C	ENSP00000502322.1:p.Glu10Asp
ENST00000263604.5:c.183G>C	ENSP00000263604.4:p.Glu61Asp
ENST00000371757.6:c.282G>C	ENSP00000360822.2:p.Glu94Asp
ENST00000460750.5:c.282G>C	ENSP00000418777.1:p.Glu94Asp
ENST00000473941.5:c.123G>C	ENSP00000420764.1:p.Glu41Asp
ENST00000486577.6:c.165G>C	ENSP00000417578.3:p.Glu55Asp
ENST00000487664.5:c.282G>C	ENSP00000417851.2:p.Glu94Asp
ENST00000488444.6:c.225G>C	ENSP00000419007.3:p.Glu75Asp
ENST00000490355.6:c.225G>C	ENSP00000418003.3:p.Glu75Asp
ENST00000491806.6:c.225G>C	ENSP00000419086.3:p.Glu75Asp
ENST00000628528.2:c.138G>C	ENSP00000486374.1:p.Glu46Asp
ENST00000630792.2:c.123G>C	ENSP00000486486.1:p.Glu41Asp
ENST00000631073.2:c.225G>C	ENSP00000486130.1:p.Glu75Asp
NM_001272003.1:c.138G>C	NP_001258932.1:p.Glu46Asp
NM_020822.2:c.282G>C	NP_065873.2:p.Glu94Asp
XM_011518877.1:c.417G>C	XP_011517179.1:p.Glu139Asp
XM_011518878.1:c.417G>C	XP_011517180.1:p.Glu139Asp
XM_011518879.1:c.417G>C	XP_011517181.1:p.Glu139Asp
XM_011518880.1:c.183G>C	XP_011517182.1:p.Glu61Asp
XM_011518877.3:c.417G>C	XP_011517179.1:p.Glu139Asp
XM_011518878.3:c.417G>C	XP_011517180.1:p.Glu139Asp
XM_011518879.3:c.417G>C	XP_011517181.1:p.Glu139Asp
XM_017014931.1:c.307G>C	XP_016870420.1:p.Glu103Gln
XM_017014932.1:c.30G>C	XP_016870421.1:p.Glu10Asp
XM_017014933.1:c.-138G>C	XP_016870422.1:n.-138G>C
XM_024447617.1:c.-238G>C	XP_024303385.1:n.-238G>C
XM_024447618.1:c.-238G>C	XP_024303386.1:n.-238G>C
NM_020822.3:c.282G>C MANE Select	NP_065873.2:p.Glu94Asp
NM_001272003.2:c.138G>C	NP_001258932.1:p.Glu46Asp