Canonical Allele Identifier: CA375493783

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138683662G>T (hg19) ; chr9:g.135791816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791816G>T , CM000671.2:g.135791816G>T	GRCh38
NC_000009.11:g.138683662G>T , CM000671.1:g.138683662G>T	GRCh37
NC_000009.10:g.137823483G>T	NCBI36
NG_033070.1:g.94632G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3522G>T MANE Select	ENSP00000360822.2:p.Gln1174His
ENST00000674572.1:c.3426G>T	ENSP00000501742.1:p.Gln1142His
ENST00000675090.1:c.3270G>T	ENSP00000501833.1:p.Gln1090His
ENST00000675399.1:c.3333G>T	ENSP00000501932.1:p.Gln1111His
ENST00000676421.1:c.3342G>T	ENSP00000502322.1:p.Gln1114His
ENST00000263604.5:c.3486G>T	ENSP00000263604.4:p.Gln1162His
ENST00000371757.6:c.3522G>T	ENSP00000360822.2:p.Gln1174His
ENST00000460750.5:c.*3195G>T	ENSP00000418777.1:n.*3195G>T
ENST00000475008.1:n.2828G>T
ENST00000486577.6:c.3468G>T	ENSP00000417578.3:p.Gln1156His
ENST00000487664.5:c.3585G>T	ENSP00000417851.2:p.Gln1195His
ENST00000488444.6:c.3507G>T	ENSP00000419007.3:p.Gln1169His
ENST00000490355.6:c.3522G>T	ENSP00000418003.3:p.Gln1174His
ENST00000491806.6:c.3465G>T	ENSP00000419086.3:p.Gln1155His
ENST00000628528.2:c.3450G>T	ENSP00000486374.1:p.Gln1150His
ENST00000630792.2:c.3420G>T	ENSP00000486486.1:p.Gln1140His
ENST00000631073.2:c.3528G>T	ENSP00000486130.1:p.Gln1176His
NM_001272003.1:c.3450G>T	NP_001258932.1:p.Gln1150His
NM_020822.2:c.3522G>T	NP_065873.2:p.Gln1174His
XM_011518877.1:c.3720G>T	XP_011517179.1:p.Gln1240His
XM_011518878.1:c.3666G>T	XP_011517180.1:p.Gln1222His
XM_011518879.1:c.3657G>T	XP_011517181.1:p.Gln1219His
XM_011518880.1:c.3486G>T	XP_011517182.1:p.Gln1162His
XM_011518881.1:c.3075G>T	XP_011517183.1:p.Gln1025His
XM_011518877.3:c.3720G>T	XP_011517179.1:p.Gln1240His
XM_011518878.3:c.3666G>T	XP_011517180.1:p.Gln1222His
XM_011518879.3:c.3657G>T	XP_011517181.1:p.Gln1219His
XM_011518881.3:c.3075G>T	XP_011517183.1:p.Gln1025His
XM_017014931.1:c.3519G>T	XP_016870420.1:p.Gln1173His
XM_017014932.1:c.3342G>T	XP_016870421.1:p.Gln1114His
XM_017014933.1:c.3075G>T	XP_016870422.1:p.Gln1025His
XM_024447617.1:c.3075G>T	XP_024303385.1:p.Gln1025His
XM_024447618.1:c.3075G>T	XP_024303386.1:p.Gln1025His
NM_020822.3:c.3522G>T MANE Select	NP_065873.2:p.Gln1174His
NM_001272003.2:c.3450G>T	NP_001258932.1:p.Gln1150His