Canonical Allele Identifier: CA375512251

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667200C>A (hg19) ; chr9:g.135775354C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775354C>A , CM000671.2:g.135775354C>A	GRCh38
NC_000009.11:g.138667200C>A , CM000671.1:g.138667200C>A	GRCh37
NC_000009.10:g.137807021C>A	NCBI36
NG_033070.1:g.78170C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2288C>A MANE Select	ENSP00000360822.2:p.Ser763Tyr
ENST00000674572.1:c.2129C>A	ENSP00000501742.1:p.Ser710Tyr
ENST00000675090.1:c.2036C>A	ENSP00000501833.1:p.Ser679Tyr
ENST00000675399.1:c.2036C>A	ENSP00000501932.1:p.Ser679Tyr
ENST00000676421.1:c.2045C>A	ENSP00000502322.1:p.Ser682Tyr
ENST00000263604.5:c.2189C>A	ENSP00000263604.4:p.Ser730Tyr
ENST00000371757.6:c.2288C>A	ENSP00000360822.2:p.Ser763Tyr
ENST00000460750.5:c.*1898C>A	ENSP00000418777.1:n.*1898C>A
ENST00000486577.6:c.2171C>A	ENSP00000417578.3:p.Ser724Tyr
ENST00000487664.5:c.2288C>A	ENSP00000417851.2:p.Ser763Tyr
ENST00000488444.6:c.2231C>A	ENSP00000419007.3:p.Ser744Tyr
ENST00000490355.6:c.2225C>A	ENSP00000418003.3:p.Ser742Tyr
ENST00000490363.3:n.2107C>A
ENST00000491806.6:c.2231C>A	ENSP00000419086.3:p.Ser744Tyr
ENST00000628528.2:c.2153C>A	ENSP00000486374.1:p.Ser718Tyr
ENST00000630792.2:c.2123C>A	ENSP00000486486.1:p.Ser708Tyr
ENST00000631073.2:c.2231C>A	ENSP00000486130.1:p.Ser744Tyr
ENST00000631193.1:c.137C>A	ENSP00000486830.1:p.Ser46Tyr
NM_001272003.1:c.2153C>A	NP_001258932.1:p.Ser718Tyr
NM_020822.2:c.2288C>A	NP_065873.2:p.Ser763Tyr
XM_011518877.1:c.2423C>A	XP_011517179.1:p.Ser808Tyr
XM_011518878.1:c.2432C>A	XP_011517180.1:p.Ser811Tyr
XM_011518879.1:c.2423C>A	XP_011517181.1:p.Ser808Tyr
XM_011518880.1:c.2189C>A	XP_011517182.1:p.Ser730Tyr
XM_011518881.1:c.1778C>A	XP_011517183.1:p.Ser593Tyr
XM_011518877.3:c.2423C>A	XP_011517179.1:p.Ser808Tyr
XM_011518878.3:c.2432C>A	XP_011517180.1:p.Ser811Tyr
XM_011518879.3:c.2423C>A	XP_011517181.1:p.Ser808Tyr
XM_011518881.3:c.1778C>A	XP_011517183.1:p.Ser593Tyr
XM_017014931.1:c.2222C>A	XP_016870420.1:p.Ser741Tyr
XM_017014932.1:c.2045C>A	XP_016870421.1:p.Ser682Tyr
XM_017014933.1:c.1778C>A	XP_016870422.1:p.Ser593Tyr
XM_024447617.1:c.1778C>A	XP_024303385.1:p.Ser593Tyr
XM_024447618.1:c.1778C>A	XP_024303386.1:p.Ser593Tyr
NM_020822.3:c.2288C>A MANE Select	NP_065873.2:p.Ser763Tyr
NM_001272003.2:c.2153C>A	NP_001258932.1:p.Ser718Tyr