Canonical Allele Identifier: CA375512202

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667185C>A (hg19) ; chr9:g.135775339C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775339C>A , CM000671.2:g.135775339C>A	GRCh38
NC_000009.11:g.138667185C>A , CM000671.1:g.138667185C>A	GRCh37
NC_000009.10:g.137807006C>A	NCBI36
NG_033070.1:g.78155C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2273C>A MANE Select	ENSP00000360822.2:p.Pro758His
ENST00000674572.1:c.2114C>A	ENSP00000501742.1:p.Pro705His
ENST00000675090.1:c.2021C>A	ENSP00000501833.1:p.Pro674His
ENST00000675399.1:c.2021C>A	ENSP00000501932.1:p.Pro674His
ENST00000676421.1:c.2030C>A	ENSP00000502322.1:p.Pro677His
ENST00000263604.5:c.2174C>A	ENSP00000263604.4:p.Pro725His
ENST00000371757.6:c.2273C>A	ENSP00000360822.2:p.Pro758His
ENST00000460750.5:c.*1883C>A	ENSP00000418777.1:n.*1883C>A
ENST00000486577.6:c.2156C>A	ENSP00000417578.3:p.Pro719His
ENST00000487664.5:c.2273C>A	ENSP00000417851.2:p.Pro758His
ENST00000488444.6:c.2216C>A	ENSP00000419007.3:p.Pro739His
ENST00000490355.6:c.2210C>A	ENSP00000418003.3:p.Pro737His
ENST00000490363.3:n.2092C>A
ENST00000491806.6:c.2216C>A	ENSP00000419086.3:p.Pro739His
ENST00000628528.2:c.2138C>A	ENSP00000486374.1:p.Pro713His
ENST00000630792.2:c.2108C>A	ENSP00000486486.1:p.Pro703His
ENST00000631073.2:c.2216C>A	ENSP00000486130.1:p.Pro739His
ENST00000631193.1:c.122C>A	ENSP00000486830.1:p.Pro41His
NM_001272003.1:c.2138C>A	NP_001258932.1:p.Pro713His
NM_020822.2:c.2273C>A	NP_065873.2:p.Pro758His
XM_011518877.1:c.2408C>A	XP_011517179.1:p.Pro803His
XM_011518878.1:c.2417C>A	XP_011517180.1:p.Pro806His
XM_011518879.1:c.2408C>A	XP_011517181.1:p.Pro803His
XM_011518880.1:c.2174C>A	XP_011517182.1:p.Pro725His
XM_011518881.1:c.1763C>A	XP_011517183.1:p.Pro588His
XM_011518877.3:c.2408C>A	XP_011517179.1:p.Pro803His
XM_011518878.3:c.2417C>A	XP_011517180.1:p.Pro806His
XM_011518879.3:c.2408C>A	XP_011517181.1:p.Pro803His
XM_011518881.3:c.1763C>A	XP_011517183.1:p.Pro588His
XM_017014931.1:c.2207C>A	XP_016870420.1:p.Pro736His
XM_017014932.1:c.2030C>A	XP_016870421.1:p.Pro677His
XM_017014933.1:c.1763C>A	XP_016870422.1:p.Pro588His
XM_024447617.1:c.1763C>A	XP_024303385.1:p.Pro588His
XM_024447618.1:c.1763C>A	XP_024303386.1:p.Pro588His
NM_020822.3:c.2273C>A MANE Select	NP_065873.2:p.Pro758His
NM_001272003.2:c.2138C>A	NP_001258932.1:p.Pro713His