Canonical Allele Identifier: CA375493757

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138683656C>G (hg19) ; chr9:g.135791810C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791810C>G , CM000671.2:g.135791810C>G	GRCh38
NC_000009.11:g.138683656C>G , CM000671.1:g.138683656C>G	GRCh37
NC_000009.10:g.137823477C>G	NCBI36
NG_033070.1:g.94626C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3516C>G MANE Select	ENSP00000360822.2:p.Asp1172Glu
ENST00000674572.1:c.3420C>G	ENSP00000501742.1:p.Asp1140Glu
ENST00000675090.1:c.3264C>G	ENSP00000501833.1:p.Asp1088Glu
ENST00000675399.1:c.3327C>G	ENSP00000501932.1:p.Asp1109Glu
ENST00000676421.1:c.3336C>G	ENSP00000502322.1:p.Asp1112Glu
ENST00000263604.5:c.3480C>G	ENSP00000263604.4:p.Asp1160Glu
ENST00000371757.6:c.3516C>G	ENSP00000360822.2:p.Asp1172Glu
ENST00000460750.5:c.*3189C>G	ENSP00000418777.1:n.*3189C>G
ENST00000475008.1:n.2822C>G
ENST00000486577.6:c.3462C>G	ENSP00000417578.3:p.Asp1154Glu
ENST00000487664.5:c.3579C>G	ENSP00000417851.2:p.Asp1193Glu
ENST00000488444.6:c.3501C>G	ENSP00000419007.3:p.Asp1167Glu
ENST00000490355.6:c.3516C>G	ENSP00000418003.3:p.Asp1172Glu
ENST00000491806.6:c.3459C>G	ENSP00000419086.3:p.Asp1153Glu
ENST00000628528.2:c.3444C>G	ENSP00000486374.1:p.Asp1148Glu
ENST00000630792.2:c.3414C>G	ENSP00000486486.1:p.Asp1138Glu
ENST00000631073.2:c.3522C>G	ENSP00000486130.1:p.Asp1174Glu
NM_001272003.1:c.3444C>G	NP_001258932.1:p.Asp1148Glu
NM_020822.2:c.3516C>G	NP_065873.2:p.Asp1172Glu
XM_011518877.1:c.3714C>G	XP_011517179.1:p.Asp1238Glu
XM_011518878.1:c.3660C>G	XP_011517180.1:p.Asp1220Glu
XM_011518879.1:c.3651C>G	XP_011517181.1:p.Asp1217Glu
XM_011518880.1:c.3480C>G	XP_011517182.1:p.Asp1160Glu
XM_011518881.1:c.3069C>G	XP_011517183.1:p.Asp1023Glu
XM_011518877.3:c.3714C>G	XP_011517179.1:p.Asp1238Glu
XM_011518878.3:c.3660C>G	XP_011517180.1:p.Asp1220Glu
XM_011518879.3:c.3651C>G	XP_011517181.1:p.Asp1217Glu
XM_011518881.3:c.3069C>G	XP_011517183.1:p.Asp1023Glu
XM_017014931.1:c.3513C>G	XP_016870420.1:p.Asp1171Glu
XM_017014932.1:c.3336C>G	XP_016870421.1:p.Asp1112Glu
XM_017014933.1:c.3069C>G	XP_016870422.1:p.Asp1023Glu
XM_024447617.1:c.3069C>G	XP_024303385.1:p.Asp1023Glu
XM_024447618.1:c.3069C>G	XP_024303386.1:p.Asp1023Glu
NM_020822.3:c.3516C>G MANE Select	NP_065873.2:p.Asp1172Glu
NM_001272003.2:c.3444C>G	NP_001258932.1:p.Asp1148Glu