Canonical Allele Identifier: CA467698754
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138667201C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775355C>G , CM000671.2:g.135775355C>G GRCh38
NC_000009.11:g.138667201C>G , CM000671.1:g.138667201C>G GRCh37
NC_000009.10:g.137807022C>G NCBI36
NG_033070.1:g.78171C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.2289C>G MANE Select ENSP00000360822.2:p.Ser763=
ENST00000674572.1:c.2130C>G ENSP00000501742.1:p.Ser710=
ENST00000675090.1:c.2037C>G ENSP00000501833.1:p.Ser679=
ENST00000675399.1:c.2037C>G ENSP00000501932.1:p.Ser679=
ENST00000676421.1:c.2046C>G ENSP00000502322.1:p.Ser682=
ENST00000263604.5:c.2190C>G ENSP00000263604.4:p.Ser730=
ENST00000371757.6:c.2289C>G ENSP00000360822.2:p.Ser763=
ENST00000460750.5:c.*1899C>G ENSP00000418777.1:n.*1899C>G
ENST00000486577.6:c.2172C>G ENSP00000417578.3:p.Ser724=
ENST00000487664.5:c.2289C>G ENSP00000417851.2:p.Ser763=
ENST00000488444.6:c.2232C>G ENSP00000419007.3:p.Ser744=
ENST00000490355.6:c.2226C>G ENSP00000418003.3:p.Ser742=
ENST00000490363.3:n.2108C>G
ENST00000491806.6:c.2232C>G ENSP00000419086.3:p.Ser744=
ENST00000628528.2:c.2154C>G ENSP00000486374.1:p.Ser718=
ENST00000630792.2:c.2124C>G ENSP00000486486.1:p.Ser708=
ENST00000631073.2:c.2232C>G ENSP00000486130.1:p.Ser744=
ENST00000631193.1:c.138C>G ENSP00000486830.1:p.Ser46=
NM_001272003.1:c.2154C>G NP_001258932.1:p.Ser718=
NM_020822.2:c.2289C>G NP_065873.2:p.Ser763=
XM_011518877.1:c.2424C>G XP_011517179.1:p.Ser808=
XM_011518878.1:c.2433C>G XP_011517180.1:p.Ser811=
XM_011518879.1:c.2424C>G XP_011517181.1:p.Ser808=
XM_011518880.1:c.2190C>G XP_011517182.1:p.Ser730=
XM_011518881.1:c.1779C>G XP_011517183.1:p.Ser593=
XM_011518877.3:c.2424C>G XP_011517179.1:p.Ser808=
XM_011518878.3:c.2433C>G XP_011517180.1:p.Ser811=
XM_011518879.3:c.2424C>G XP_011517181.1:p.Ser808=
XM_011518881.3:c.1779C>G XP_011517183.1:p.Ser593=
XM_017014931.1:c.2223C>G XP_016870420.1:p.Ser741=
XM_017014932.1:c.2046C>G XP_016870421.1:p.Ser682=
XM_017014933.1:c.1779C>G XP_016870422.1:p.Ser593=
XM_024447617.1:c.1779C>G XP_024303385.1:p.Ser593=
XM_024447618.1:c.1779C>G XP_024303386.1:p.Ser593=
NM_020822.3:c.2289C>G MANE Select NP_065873.2:p.Ser763=
NM_001272003.2:c.2154C>G NP_001258932.1:p.Ser718=