Canonical Allele Identifier: CA375506648

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662236T>G (hg19) ; chr9:g.135770390T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770390T>G , CM000671.2:g.135770390T>G	GRCh38
NC_000009.11:g.138662236T>G , CM000671.1:g.138662236T>G	GRCh37
NC_000009.10:g.137802057T>G	NCBI36
NG_033070.1:g.73206T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1712T>G MANE Select	ENSP00000360822.2:p.Phe571Cys
ENST00000674572.1:c.1553T>G	ENSP00000501742.1:p.Phe518Cys
ENST00000675090.1:c.1460T>G	ENSP00000501833.1:p.Phe487Cys
ENST00000675399.1:c.1460T>G	ENSP00000501932.1:p.Phe487Cys
ENST00000676421.1:c.1469T>G	ENSP00000502322.1:p.Phe490Cys
ENST00000263604.5:c.1613T>G	ENSP00000263604.4:p.Phe538Cys
ENST00000371757.6:c.1712T>G	ENSP00000360822.2:p.Phe571Cys
ENST00000460750.5:c.*1322T>G	ENSP00000418777.1:n.*1322T>G
ENST00000486577.6:c.1595T>G	ENSP00000417578.3:p.Phe532Cys
ENST00000487664.5:c.1712T>G	ENSP00000417851.2:p.Phe571Cys
ENST00000488444.6:c.1655T>G	ENSP00000419007.3:p.Phe552Cys
ENST00000490355.6:c.1655T>G	ENSP00000418003.3:p.Phe552Cys
ENST00000490363.3:n.1531T>G
ENST00000491806.6:c.1655T>G	ENSP00000419086.3:p.Phe552Cys
ENST00000628528.2:c.1577T>G	ENSP00000486374.1:p.Phe526Cys
ENST00000630792.2:c.1553T>G	ENSP00000486486.1:p.Phe518Cys
ENST00000631073.2:c.1655T>G	ENSP00000486130.1:p.Phe552Cys
NM_001272003.1:c.1577T>G	NP_001258932.1:p.Phe526Cys
NM_020822.2:c.1712T>G	NP_065873.2:p.Phe571Cys
XM_011518877.1:c.1847T>G	XP_011517179.1:p.Phe616Cys
XM_011518878.1:c.1856T>G	XP_011517180.1:p.Phe619Cys
XM_011518879.1:c.1847T>G	XP_011517181.1:p.Phe616Cys
XM_011518880.1:c.1613T>G	XP_011517182.1:p.Phe538Cys
XM_011518881.1:c.1202T>G	XP_011517183.1:p.Phe401Cys
XM_011518877.3:c.1847T>G	XP_011517179.1:p.Phe616Cys
XM_011518878.3:c.1856T>G	XP_011517180.1:p.Phe619Cys
XM_011518879.3:c.1847T>G	XP_011517181.1:p.Phe616Cys
XM_011518881.3:c.1202T>G	XP_011517183.1:p.Phe401Cys
XM_017014931.1:c.1646T>G	XP_016870420.1:p.Phe549Cys
XM_017014932.1:c.1469T>G	XP_016870421.1:p.Phe490Cys
XM_017014933.1:c.1202T>G	XP_016870422.1:p.Phe401Cys
XM_024447617.1:c.1202T>G	XP_024303385.1:p.Phe401Cys
XM_024447618.1:c.1202T>G	XP_024303386.1:p.Phe401Cys
NM_020822.3:c.1712T>G MANE Select	NP_065873.2:p.Phe571Cys
NM_001272003.2:c.1577T>G	NP_001258932.1:p.Phe526Cys