Canonical Allele Identifier: CA467685455

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641947C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750101C>G , CM000671.2:g.135750101C>G	GRCh38
NC_000009.11:g.138641947C>G , CM000671.1:g.138641947C>G	GRCh37
NC_000009.10:g.137781768C>G	NCBI36
NG_033070.1:g.52917C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.258C>G MANE Select	ENSP00000360822.2:p.Val86=
ENST00000637018.1:n.63C>G
ENST00000674572.1:c.99C>G	ENSP00000501742.1:p.Val33=
ENST00000675090.1:c.6C>G	ENSP00000501833.1:p.Val2=
ENST00000675399.1:c.6C>G	ENSP00000501932.1:p.Val2=
ENST00000676421.1:c.6C>G	ENSP00000502322.1:p.Val2=
ENST00000263604.5:c.159C>G	ENSP00000263604.4:p.Val53=
ENST00000371757.6:c.258C>G	ENSP00000360822.2:p.Val86=
ENST00000460750.5:c.258C>G	ENSP00000418777.1:p.Val86=
ENST00000473941.5:c.99C>G	ENSP00000420764.1:p.Val33=
ENST00000486577.6:c.141C>G	ENSP00000417578.3:p.Val47=
ENST00000487664.5:c.258C>G	ENSP00000417851.2:p.Val86=
ENST00000488444.6:c.201C>G	ENSP00000419007.3:p.Val67=
ENST00000490355.6:c.201C>G	ENSP00000418003.3:p.Val67=
ENST00000491806.6:c.201C>G	ENSP00000419086.3:p.Val67=
ENST00000628528.2:c.114C>G	ENSP00000486374.1:p.Val38=
ENST00000630792.2:c.99C>G	ENSP00000486486.1:p.Val33=
ENST00000631073.2:c.201C>G	ENSP00000486130.1:p.Val67=
NM_001272003.1:c.114C>G	NP_001258932.1:p.Val38=
NM_020822.2:c.258C>G	NP_065873.2:p.Val86=
XM_011518877.1:c.393C>G	XP_011517179.1:p.Val131=
XM_011518878.1:c.393C>G	XP_011517180.1:p.Val131=
XM_011518879.1:c.393C>G	XP_011517181.1:p.Val131=
XM_011518880.1:c.159C>G	XP_011517182.1:p.Val53=
XM_011518877.3:c.393C>G	XP_011517179.1:p.Val131=
XM_011518878.3:c.393C>G	XP_011517180.1:p.Val131=
XM_011518879.3:c.393C>G	XP_011517181.1:p.Val131=
XM_017014931.1:c.283C>G	XP_016870420.1:p.Pro95Ala
XM_017014932.1:c.6C>G	XP_016870421.1:p.Val2=
XM_017014933.1:c.-162C>G	XP_016870422.1:n.-162C>G
XM_024447617.1:c.-262C>G	XP_024303385.1:n.-262C>G
XM_024447618.1:c.-262C>G	XP_024303386.1:n.-262C>G
NM_020822.3:c.258C>G MANE Select	NP_065873.2:p.Val86=
NM_001272003.2:c.114C>G	NP_001258932.1:p.Val38=