Canonical Allele Identifier: CA375494685

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641944G>T (hg19) ; chr9:g.135750098G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750098G>T , CM000671.2:g.135750098G>T	GRCh38
NC_000009.11:g.138641944G>T , CM000671.1:g.138641944G>T	GRCh37
NC_000009.10:g.137781765G>T	NCBI36
NG_033070.1:g.52914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.255G>T MANE Select	ENSP00000360822.2:p.Arg85Ser
ENST00000637018.1:n.60G>T
ENST00000674572.1:c.96G>T	ENSP00000501742.1:p.Arg32Ser
ENST00000675090.1:c.3G>T	ENSP00000501833.1:p.Met1Ile
ENST00000675399.1:c.3G>T	ENSP00000501932.1:p.Met1Ile
ENST00000676421.1:c.3G>T	ENSP00000502322.1:p.Met1Ile
ENST00000263604.5:c.156G>T	ENSP00000263604.4:p.Arg52Ser
ENST00000371757.6:c.255G>T	ENSP00000360822.2:p.Arg85Ser
ENST00000460750.5:c.255G>T	ENSP00000418777.1:p.Arg85Ser
ENST00000473941.5:c.96G>T	ENSP00000420764.1:p.Arg32Ser
ENST00000486577.6:c.138G>T	ENSP00000417578.3:p.Gln46His
ENST00000487664.5:c.255G>T	ENSP00000417851.2:p.Arg85Ser
ENST00000488444.6:c.198G>T	ENSP00000419007.3:p.Gln66His
ENST00000490355.6:c.198G>T	ENSP00000418003.3:p.Gln66His
ENST00000491806.6:c.198G>T	ENSP00000419086.3:p.Gln66His
ENST00000628528.2:c.111G>T	ENSP00000486374.1:p.Arg37Ser
ENST00000630792.2:c.96G>T	ENSP00000486486.1:p.Arg32Ser
ENST00000631073.2:c.198G>T	ENSP00000486130.1:p.Gln66His
NM_001272003.1:c.111G>T	NP_001258932.1:p.Arg37Ser
NM_020822.2:c.255G>T	NP_065873.2:p.Arg85Ser
XM_011518877.1:c.390G>T	XP_011517179.1:p.Arg130Ser
XM_011518878.1:c.390G>T	XP_011517180.1:p.Arg130Ser
XM_011518879.1:c.390G>T	XP_011517181.1:p.Arg130Ser
XM_011518880.1:c.156G>T	XP_011517182.1:p.Arg52Ser
XM_011518877.3:c.390G>T	XP_011517179.1:p.Arg130Ser
XM_011518878.3:c.390G>T	XP_011517180.1:p.Arg130Ser
XM_011518879.3:c.390G>T	XP_011517181.1:p.Arg130Ser
XM_017014931.1:c.280G>T	XP_016870420.1:p.Gly94Cys
XM_017014932.1:c.3G>T	XP_016870421.1:p.Met1Ile
XM_017014933.1:c.-165G>T	XP_016870422.1:n.-165G>T
XM_024447617.1:c.-265G>T	XP_024303385.1:n.-265G>T
XM_024447618.1:c.-265G>T	XP_024303386.1:n.-265G>T
NM_020822.3:c.255G>T MANE Select	NP_065873.2:p.Arg85Ser
NM_001272003.2:c.111G>T	NP_001258932.1:p.Arg37Ser