Canonical Allele Identifier: CA375500993

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657473T>G (hg19) ; chr9:g.135765627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765627T>G , CM000671.2:g.135765627T>G	GRCh38
NC_000009.11:g.138657473T>G , CM000671.1:g.138657473T>G	GRCh37
NC_000009.10:g.137797294T>G	NCBI36
NG_033070.1:g.68443T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1204T>G MANE Select	ENSP00000360822.2:p.Tyr402Asp
ENST00000674572.1:c.1045T>G	ENSP00000501742.1:p.Tyr349Asp
ENST00000675090.1:c.952T>G	ENSP00000501833.1:p.Tyr318Asp
ENST00000675399.1:c.952T>G	ENSP00000501932.1:p.Tyr318Asp
ENST00000676421.1:c.961T>G	ENSP00000502322.1:p.Tyr321Asp
ENST00000263604.5:c.1105T>G	ENSP00000263604.4:p.Tyr369Asp
ENST00000371757.6:c.1204T>G	ENSP00000360822.2:p.Tyr402Asp
ENST00000460750.5:c.*814T>G	ENSP00000418777.1:n.*814T>G
ENST00000486577.6:c.1087T>G	ENSP00000417578.3:p.Tyr363Asp
ENST00000487664.5:c.1204T>G	ENSP00000417851.2:p.Tyr402Asp
ENST00000488444.6:c.1147T>G	ENSP00000419007.3:p.Tyr383Asp
ENST00000490355.6:c.1147T>G	ENSP00000418003.3:p.Tyr383Asp
ENST00000490363.3:n.1023T>G
ENST00000491806.6:c.1147T>G	ENSP00000419086.3:p.Tyr383Asp
ENST00000628528.2:c.1069T>G	ENSP00000486374.1:p.Tyr357Asp
ENST00000630792.2:c.1045T>G	ENSP00000486486.1:p.Tyr349Asp
ENST00000631073.2:c.1147T>G	ENSP00000486130.1:p.Tyr383Asp
NM_001272003.1:c.1069T>G	NP_001258932.1:p.Tyr357Asp
NM_020822.2:c.1204T>G	NP_065873.2:p.Tyr402Asp
XM_011518877.1:c.1339T>G	XP_011517179.1:p.Tyr447Asp
XM_011518878.1:c.1348T>G	XP_011517180.1:p.Tyr450Asp
XM_011518879.1:c.1339T>G	XP_011517181.1:p.Tyr447Asp
XM_011518880.1:c.1105T>G	XP_011517182.1:p.Tyr369Asp
XM_011518881.1:c.694T>G	XP_011517183.1:p.Tyr232Asp
XM_011518877.3:c.1339T>G	XP_011517179.1:p.Tyr447Asp
XM_011518878.3:c.1348T>G	XP_011517180.1:p.Tyr450Asp
XM_011518879.3:c.1339T>G	XP_011517181.1:p.Tyr447Asp
XM_011518881.3:c.694T>G	XP_011517183.1:p.Tyr232Asp
XM_017014931.1:c.1138T>G	XP_016870420.1:p.Tyr380Asp
XM_017014932.1:c.961T>G	XP_016870421.1:p.Tyr321Asp
XM_017014933.1:c.694T>G	XP_016870422.1:p.Tyr232Asp
XM_024447617.1:c.694T>G	XP_024303385.1:p.Tyr232Asp
XM_024447618.1:c.694T>G	XP_024303386.1:p.Tyr232Asp
NM_020822.3:c.1204T>G MANE Select	NP_065873.2:p.Tyr402Asp
NM_001272003.2:c.1069T>G	NP_001258932.1:p.Tyr357Asp