Canonical Allele Identifier: CA467698795

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667225T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775379T>G , CM000671.2:g.135775379T>G	GRCh38
NC_000009.11:g.138667225T>G , CM000671.1:g.138667225T>G	GRCh37
NC_000009.10:g.137807046T>G	NCBI36
NG_033070.1:g.78195T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2313T>G MANE Select	ENSP00000360822.2:p.Pro771=
ENST00000674572.1:c.2154T>G	ENSP00000501742.1:p.Pro718=
ENST00000675090.1:c.2061T>G	ENSP00000501833.1:p.Pro687=
ENST00000675399.1:c.2061T>G	ENSP00000501932.1:p.Pro687=
ENST00000676421.1:c.2070T>G	ENSP00000502322.1:p.Pro690=
ENST00000263604.5:c.2214T>G	ENSP00000263604.4:p.Pro738=
ENST00000371757.6:c.2313T>G	ENSP00000360822.2:p.Pro771=
ENST00000460750.5:c.*1923T>G	ENSP00000418777.1:n.*1923T>G
ENST00000486577.6:c.2196T>G	ENSP00000417578.3:p.Pro732=
ENST00000487664.5:c.2313T>G	ENSP00000417851.2:p.Pro771=
ENST00000488444.6:c.2256T>G	ENSP00000419007.3:p.Pro752=
ENST00000490355.6:c.2250T>G	ENSP00000418003.3:p.Pro750=
ENST00000490363.3:n.2132T>G
ENST00000491806.6:c.2256T>G	ENSP00000419086.3:p.Pro752=
ENST00000628528.2:c.2178T>G	ENSP00000486374.1:p.Pro726=
ENST00000630792.2:c.2148T>G	ENSP00000486486.1:p.Pro716=
ENST00000631073.2:c.2256T>G	ENSP00000486130.1:p.Pro752=
ENST00000631193.1:c.162T>G	ENSP00000486830.1:p.Pro54=
NM_001272003.1:c.2178T>G	NP_001258932.1:p.Pro726=
NM_020822.2:c.2313T>G	NP_065873.2:p.Pro771=
XM_011518877.1:c.2448T>G	XP_011517179.1:p.Pro816=
XM_011518878.1:c.2457T>G	XP_011517180.1:p.Pro819=
XM_011518879.1:c.2448T>G	XP_011517181.1:p.Pro816=
XM_011518880.1:c.2214T>G	XP_011517182.1:p.Pro738=
XM_011518881.1:c.1803T>G	XP_011517183.1:p.Pro601=
XM_011518877.3:c.2448T>G	XP_011517179.1:p.Pro816=
XM_011518878.3:c.2457T>G	XP_011517180.1:p.Pro819=
XM_011518879.3:c.2448T>G	XP_011517181.1:p.Pro816=
XM_011518881.3:c.1803T>G	XP_011517183.1:p.Pro601=
XM_017014931.1:c.2247T>G	XP_016870420.1:p.Pro749=
XM_017014932.1:c.2070T>G	XP_016870421.1:p.Pro690=
XM_017014933.1:c.1803T>G	XP_016870422.1:p.Pro601=
XM_024447617.1:c.1803T>G	XP_024303385.1:p.Pro601=
XM_024447618.1:c.1803T>G	XP_024303386.1:p.Pro601=
NM_020822.3:c.2313T>G MANE Select	NP_065873.2:p.Pro771=
NM_001272003.2:c.2178T>G	NP_001258932.1:p.Pro726=