Canonical Allele Identifier: CA375506039

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138661892C>G (hg19) ; chr9:g.135770046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770046C>G , CM000671.2:g.135770046C>G	GRCh38
NC_000009.11:g.138661892C>G , CM000671.1:g.138661892C>G	GRCh37
NC_000009.10:g.137801713C>G	NCBI36
NG_033070.1:g.72862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1610C>G MANE Select	ENSP00000360822.2:p.Ser537Cys
ENST00000674572.1:c.1451C>G	ENSP00000501742.1:p.Ser484Cys
ENST00000675090.1:c.1358C>G	ENSP00000501833.1:p.Ser453Cys
ENST00000675399.1:c.1358C>G	ENSP00000501932.1:p.Ser453Cys
ENST00000676421.1:c.1367C>G	ENSP00000502322.1:p.Ser456Cys
ENST00000263604.5:c.1511C>G	ENSP00000263604.4:p.Ser504Cys
ENST00000371757.6:c.1610C>G	ENSP00000360822.2:p.Ser537Cys
ENST00000460750.5:c.*1220C>G	ENSP00000418777.1:n.*1220C>G
ENST00000486577.6:c.1493C>G	ENSP00000417578.3:p.Ser498Cys
ENST00000487664.5:c.1610C>G	ENSP00000417851.2:p.Ser537Cys
ENST00000488444.6:c.1553C>G	ENSP00000419007.3:p.Ser518Cys
ENST00000490355.6:c.1553C>G	ENSP00000418003.3:p.Ser518Cys
ENST00000490363.3:n.1429C>G
ENST00000491806.6:c.1553C>G	ENSP00000419086.3:p.Ser518Cys
ENST00000628528.2:c.1475C>G	ENSP00000486374.1:p.Ser492Cys
ENST00000630792.2:c.1451C>G	ENSP00000486486.1:p.Ser484Cys
ENST00000631073.2:c.1553C>G	ENSP00000486130.1:p.Ser518Cys
NM_001272003.1:c.1475C>G	NP_001258932.1:p.Ser492Cys
NM_020822.2:c.1610C>G	NP_065873.2:p.Ser537Cys
XM_011518877.1:c.1745C>G	XP_011517179.1:p.Ser582Cys
XM_011518878.1:c.1754C>G	XP_011517180.1:p.Ser585Cys
XM_011518879.1:c.1745C>G	XP_011517181.1:p.Ser582Cys
XM_011518880.1:c.1511C>G	XP_011517182.1:p.Ser504Cys
XM_011518881.1:c.1100C>G	XP_011517183.1:p.Ser367Cys
XM_011518877.3:c.1745C>G	XP_011517179.1:p.Ser582Cys
XM_011518878.3:c.1754C>G	XP_011517180.1:p.Ser585Cys
XM_011518879.3:c.1745C>G	XP_011517181.1:p.Ser582Cys
XM_011518881.3:c.1100C>G	XP_011517183.1:p.Ser367Cys
XM_017014931.1:c.1544C>G	XP_016870420.1:p.Ser515Cys
XM_017014932.1:c.1367C>G	XP_016870421.1:p.Ser456Cys
XM_017014933.1:c.1100C>G	XP_016870422.1:p.Ser367Cys
XM_024447617.1:c.1100C>G	XP_024303385.1:p.Ser367Cys
XM_024447618.1:c.1100C>G	XP_024303386.1:p.Ser367Cys
NM_020822.3:c.1610C>G MANE Select	NP_065873.2:p.Ser537Cys
NM_001272003.2:c.1475C>G	NP_001258932.1:p.Ser492Cys