Canonical Allele Identifier: CA375494819

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138642003T>A (hg19) ; chr9:g.135750157T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750157T>A , CM000671.2:g.135750157T>A	GRCh38
NC_000009.11:g.138642003T>A , CM000671.1:g.138642003T>A	GRCh37
NC_000009.10:g.137781824T>A	NCBI36
NG_033070.1:g.52973T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.314T>A MANE Select	ENSP00000360822.2:p.Phe105Tyr
ENST00000637018.1:n.119T>A
ENST00000638123.1:n.49T>A
ENST00000674572.1:c.155T>A	ENSP00000501742.1:p.Phe52Tyr
ENST00000675090.1:c.62T>A	ENSP00000501833.1:p.Phe21Tyr
ENST00000675399.1:c.62T>A	ENSP00000501932.1:p.Phe21Tyr
ENST00000676421.1:c.62T>A	ENSP00000502322.1:p.Phe21Tyr
ENST00000263604.5:c.215T>A	ENSP00000263604.4:p.Phe72Tyr
ENST00000371757.6:c.314T>A	ENSP00000360822.2:p.Phe105Tyr
ENST00000460750.5:c.314T>A	ENSP00000418777.1:p.Phe105Tyr
ENST00000473941.5:c.155T>A	ENSP00000420764.1:p.Phe52Tyr
ENST00000486577.6:c.197T>A	ENSP00000417578.3:p.Phe66Tyr
ENST00000487664.5:c.314T>A	ENSP00000417851.2:p.Phe105Tyr
ENST00000488444.6:c.257T>A	ENSP00000419007.3:p.Phe86Tyr
ENST00000490355.6:c.257T>A	ENSP00000418003.3:p.Phe86Tyr
ENST00000491806.6:c.257T>A	ENSP00000419086.3:p.Phe86Tyr
ENST00000628528.2:c.170T>A	ENSP00000486374.1:p.Phe57Tyr
ENST00000630792.2:c.155T>A	ENSP00000486486.1:p.Phe52Tyr
ENST00000631073.2:c.257T>A	ENSP00000486130.1:p.Phe86Tyr
NM_001272003.1:c.170T>A	NP_001258932.1:p.Phe57Tyr
NM_020822.2:c.314T>A	NP_065873.2:p.Phe105Tyr
XM_011518877.1:c.449T>A	XP_011517179.1:p.Phe150Tyr
XM_011518878.1:c.449T>A	XP_011517180.1:p.Phe150Tyr
XM_011518879.1:c.449T>A	XP_011517181.1:p.Phe150Tyr
XM_011518880.1:c.215T>A	XP_011517182.1:p.Phe72Tyr
XM_011518877.3:c.449T>A	XP_011517179.1:p.Phe150Tyr
XM_011518878.3:c.449T>A	XP_011517180.1:p.Phe150Tyr
XM_011518879.3:c.449T>A	XP_011517181.1:p.Phe150Tyr
XM_017014931.1:c.339T>A	XP_016870420.1:p.Leu113=
XM_017014932.1:c.62T>A	XP_016870421.1:p.Phe21Tyr
XM_017014933.1:c.-106T>A	XP_016870422.1:n.-106T>A
XM_024447617.1:c.-206T>A	XP_024303385.1:n.-206T>A
XM_024447618.1:c.-206T>A	XP_024303386.1:n.-206T>A
NM_020822.3:c.314T>A MANE Select	NP_065873.2:p.Phe105Tyr
NM_001272003.2:c.170T>A	NP_001258932.1:p.Phe57Tyr