Canonical Allele Identifier: CA375499968

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138656920G>T (hg19) ; chr9:g.135765074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765074G>T , CM000671.2:g.135765074G>T	GRCh38
NC_000009.11:g.138656920G>T , CM000671.1:g.138656920G>T	GRCh37
NC_000009.10:g.137796741G>T	NCBI36
NG_033070.1:g.67890G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1079G>T MANE Select	ENSP00000360822.2:p.Gly360Val
ENST00000674572.1:c.920G>T	ENSP00000501742.1:p.Gly307Val
ENST00000675090.1:c.827G>T	ENSP00000501833.1:p.Gly276Val
ENST00000675399.1:c.827G>T	ENSP00000501932.1:p.Gly276Val
ENST00000676421.1:c.836G>T	ENSP00000502322.1:p.Gly279Val
ENST00000263604.5:c.980G>T	ENSP00000263604.4:p.Gly327Val
ENST00000371757.6:c.1079G>T	ENSP00000360822.2:p.Gly360Val
ENST00000460750.5:c.*689G>T	ENSP00000418777.1:n.*689G>T
ENST00000486577.6:c.962G>T	ENSP00000417578.3:p.Gly321Val
ENST00000487664.5:c.1079G>T	ENSP00000417851.2:p.Gly360Val
ENST00000488444.6:c.1022G>T	ENSP00000419007.3:p.Gly341Val
ENST00000490355.6:c.1022G>T	ENSP00000418003.3:p.Gly341Val
ENST00000490363.3:n.898G>T
ENST00000491806.6:c.1022G>T	ENSP00000419086.3:p.Gly341Val
ENST00000628528.2:c.944G>T	ENSP00000486374.1:p.Gly315Val
ENST00000630792.2:c.920G>T	ENSP00000486486.1:p.Gly307Val
ENST00000631073.2:c.1022G>T	ENSP00000486130.1:p.Gly341Val
NM_001272003.1:c.944G>T	NP_001258932.1:p.Gly315Val
NM_020822.2:c.1079G>T	NP_065873.2:p.Gly360Val
XM_011518877.1:c.1214G>T	XP_011517179.1:p.Gly405Val
XM_011518878.1:c.1223G>T	XP_011517180.1:p.Gly408Val
XM_011518879.1:c.1214G>T	XP_011517181.1:p.Gly405Val
XM_011518880.1:c.980G>T	XP_011517182.1:p.Gly327Val
XM_011518881.1:c.569G>T	XP_011517183.1:p.Gly190Val
XM_011518877.3:c.1214G>T	XP_011517179.1:p.Gly405Val
XM_011518878.3:c.1223G>T	XP_011517180.1:p.Gly408Val
XM_011518879.3:c.1214G>T	XP_011517181.1:p.Gly405Val
XM_011518881.3:c.569G>T	XP_011517183.1:p.Gly190Val
XM_017014931.1:c.1013G>T	XP_016870420.1:p.Gly338Val
XM_017014932.1:c.836G>T	XP_016870421.1:p.Gly279Val
XM_017014933.1:c.569G>T	XP_016870422.1:p.Gly190Val
XM_024447617.1:c.569G>T	XP_024303385.1:p.Gly190Val
XM_024447618.1:c.569G>T	XP_024303386.1:p.Gly190Val
NM_020822.3:c.1079G>T MANE Select	NP_065873.2:p.Gly360Val
NM_001272003.2:c.944G>T	NP_001258932.1:p.Gly315Val