Canonical Allele Identifier: CA130391

Gene: KCNT1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135779429G>A , CM000671.2:g.135779429G>A	GRCh38
NC_000009.11:g.138671275G>A , CM000671.1:g.138671275G>A	GRCh37
NC_000009.10:g.137811096G>A	NCBI36
NG_033070.1:g.82245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2800G>A MANE Select	ENSP00000360822.2:p.Ala934Thr
ENST00000674572.1:c.2641G>A	ENSP00000501742.1:p.Ala881Thr
ENST00000675090.1:c.2548G>A	ENSP00000501833.1:p.Ala850Thr
ENST00000675102.1:n.1334G>A
ENST00000675399.1:c.2548G>A	ENSP00000501932.1:p.Ala850Thr
ENST00000676421.1:c.2557G>A	ENSP00000502322.1:p.Ala853Thr
ENST00000263604.5:c.2701G>A	ENSP00000263604.4:p.Ala901Thr
ENST00000371757.6:c.2800G>A	ENSP00000360822.2:p.Ala934Thr
ENST00000460750.5:c.*2410G>A	ENSP00000418777.1:n.*2410G>A
ENST00000486577.6:c.2683G>A	ENSP00000417578.3:p.Ala895Thr
ENST00000487664.5:c.2800G>A	ENSP00000417851.2:p.Ala934Thr
ENST00000488444.6:c.2743G>A	ENSP00000419007.3:p.Ala915Thr
ENST00000490355.6:c.2737G>A	ENSP00000418003.3:p.Ala913Thr
ENST00000490363.3:n.2619G>A
ENST00000491806.6:c.2743G>A	ENSP00000419086.3:p.Ala915Thr
ENST00000628528.2:c.2665G>A	ENSP00000486374.1:p.Ala889Thr
ENST00000630792.2:c.2635G>A	ENSP00000486486.1:p.Ala879Thr
ENST00000631073.2:c.2743G>A	ENSP00000486130.1:p.Ala915Thr
ENST00000631193.1:c.666G>A	ENSP00000486830.1:n.666G>A
NM_001272003.1:c.2665G>A	NP_001258932.1:p.Ala889Thr
NM_020822.2:c.2800G>A	NP_065873.2:p.Ala934Thr
XM_011518877.1:c.2935G>A	XP_011517179.1:p.Ala979Thr
XM_011518878.1:c.2944G>A	XP_011517180.1:p.Ala982Thr
XM_011518879.1:c.2935G>A	XP_011517181.1:p.Ala979Thr
XM_011518880.1:c.2701G>A	XP_011517182.1:p.Ala901Thr
XM_011518881.1:c.2290G>A	XP_011517183.1:p.Ala764Thr
XM_011518877.3:c.2935G>A	XP_011517179.1:p.Ala979Thr
XM_011518878.3:c.2944G>A	XP_011517180.1:p.Ala982Thr
XM_011518879.3:c.2935G>A	XP_011517181.1:p.Ala979Thr
XM_011518881.3:c.2290G>A	XP_011517183.1:p.Ala764Thr
XM_017014931.1:c.2734G>A	XP_016870420.1:p.Ala912Thr
XM_017014932.1:c.2557G>A	XP_016870421.1:p.Ala853Thr
XM_017014933.1:c.2290G>A	XP_016870422.1:p.Ala764Thr
XM_024447617.1:c.2290G>A	XP_024303385.1:p.Ala764Thr
XM_024447618.1:c.2290G>A	XP_024303386.1:p.Ala764Thr
NM_020822.3:c.2800G>A MANE Select	NP_065873.2:p.Ala934Thr
NM_001272003.2:c.2665G>A	NP_001258932.1:p.Ala889Thr