Canonical Allele Identifier: CA375493845

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138683675T>G (hg19) ; chr9:g.135791829T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791829T>G , CM000671.2:g.135791829T>G	GRCh38
NC_000009.11:g.138683675T>G , CM000671.1:g.138683675T>G	GRCh37
NC_000009.10:g.137823496T>G	NCBI36
NG_033070.1:g.94645T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3535T>G MANE Select	ENSP00000360822.2:p.Tyr1179Asp
ENST00000674572.1:c.3439T>G	ENSP00000501742.1:p.Tyr1147Asp
ENST00000675090.1:c.3283T>G	ENSP00000501833.1:p.Tyr1095Asp
ENST00000675399.1:c.3346T>G	ENSP00000501932.1:p.Tyr1116Asp
ENST00000676421.1:c.3355T>G	ENSP00000502322.1:p.Tyr1119Asp
ENST00000263604.5:c.3499T>G	ENSP00000263604.4:p.Tyr1167Asp
ENST00000371757.6:c.3535T>G	ENSP00000360822.2:p.Tyr1179Asp
ENST00000460750.5:c.*3208T>G	ENSP00000418777.1:n.*3208T>G
ENST00000475008.1:n.2841T>G
ENST00000486577.6:c.3481T>G	ENSP00000417578.3:p.Tyr1161Asp
ENST00000487664.5:c.3598T>G	ENSP00000417851.2:p.Tyr1200Asp
ENST00000488444.6:c.3520T>G	ENSP00000419007.3:p.Tyr1174Asp
ENST00000490355.6:c.3535T>G	ENSP00000418003.3:p.Tyr1179Asp
ENST00000491806.6:c.3478T>G	ENSP00000419086.3:p.Tyr1160Asp
ENST00000628528.2:c.3463T>G	ENSP00000486374.1:p.Tyr1155Asp
ENST00000630792.2:c.3433T>G	ENSP00000486486.1:p.Tyr1145Asp
ENST00000631073.2:c.3541T>G	ENSP00000486130.1:p.Tyr1181Asp
NM_001272003.1:c.3463T>G	NP_001258932.1:p.Tyr1155Asp
NM_020822.2:c.3535T>G	NP_065873.2:p.Tyr1179Asp
XM_011518877.1:c.3733T>G	XP_011517179.1:p.Tyr1245Asp
XM_011518878.1:c.3679T>G	XP_011517180.1:p.Tyr1227Asp
XM_011518879.1:c.3670T>G	XP_011517181.1:p.Tyr1224Asp
XM_011518880.1:c.3499T>G	XP_011517182.1:p.Tyr1167Asp
XM_011518881.1:c.3088T>G	XP_011517183.1:p.Tyr1030Asp
XM_011518877.3:c.3733T>G	XP_011517179.1:p.Tyr1245Asp
XM_011518878.3:c.3679T>G	XP_011517180.1:p.Tyr1227Asp
XM_011518879.3:c.3670T>G	XP_011517181.1:p.Tyr1224Asp
XM_011518881.3:c.3088T>G	XP_011517183.1:p.Tyr1030Asp
XM_017014931.1:c.3532T>G	XP_016870420.1:p.Tyr1178Asp
XM_017014932.1:c.3355T>G	XP_016870421.1:p.Tyr1119Asp
XM_017014933.1:c.3088T>G	XP_016870422.1:p.Tyr1030Asp
XM_024447617.1:c.3088T>G	XP_024303385.1:p.Tyr1030Asp
XM_024447618.1:c.3088T>G	XP_024303386.1:p.Tyr1030Asp
NM_020822.3:c.3535T>G MANE Select	NP_065873.2:p.Tyr1179Asp
NM_001272003.2:c.3463T>G	NP_001258932.1:p.Tyr1155Asp