Canonical Allele Identifier: CA16605581
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135751024G>A , CM000671.2:g.135751024G>A GRCh38
NC_000009.11:g.138642870G>A , CM000671.1:g.138642870G>A GRCh37
NC_000009.10:g.137782691G>A NCBI36
NG_033070.1:g.53840G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.417G>A MANE Select NP_065873.2:p.Pro139=
ENST00000371757.7:c.417G>A MANE Select ENSP00000360822.2:p.Pro139=
NM_001272003.1:c.273G>A NP_001258932.1:p.Pro91=
NM_001272003.2:c.273G>A NP_001258932.1:p.Pro91=
NM_020822.2:c.417G>A NP_065873.2:p.Pro139=
ENST00000263604.5:c.318G>A ENSP00000263604.4:p.Pro106=
ENST00000371757.6:c.417G>A ENSP00000360822.2:p.Pro139=
ENST00000460750.5:c.334+847G>A ENSP00000418777.1:n.334+847G>A
ENST00000473941.5:c.258G>A ENSP00000420764.1:p.Pro86=
ENST00000486577.6:c.300G>A ENSP00000417578.3:p.Pro100=
ENST00000487664.5:c.417G>A ENSP00000417851.2:p.Pro139=
ENST00000488444.6:c.360G>A ENSP00000419007.3:p.Pro120=
ENST00000490355.6:c.360G>A ENSP00000418003.3:p.Pro120=
ENST00000491806.6:c.360G>A ENSP00000419086.3:p.Pro120=
ENST00000628528.2:c.273G>A ENSP00000486374.1:p.Pro91=
ENST00000630792.2:c.258G>A ENSP00000486486.1:p.Pro86=
ENST00000631073.2:c.360G>A ENSP00000486130.1:p.Pro120=
ENST00000636961.1:n.5G>A
ENST00000674572.1:c.258G>A ENSP00000501742.1:p.Pro86=
ENST00000675090.1:c.165G>A ENSP00000501833.1:p.Pro55=
ENST00000675399.1:c.165G>A ENSP00000501932.1:p.Pro55=
ENST00000676421.1:c.165G>A ENSP00000502322.1:p.Pro55=
XM_011518877.1:c.552G>A XP_011517179.1:p.Pro184=
XM_011518877.3:c.552G>A XP_011517179.1:p.Pro184=
XM_011518878.1:c.552G>A XP_011517180.1:p.Pro184=
XM_011518878.3:c.552G>A XP_011517180.1:p.Pro184=
XM_011518879.1:c.552G>A XP_011517181.1:p.Pro184=
XM_011518879.3:c.552G>A XP_011517181.1:p.Pro184=
XM_011518880.1:c.318G>A XP_011517182.1:p.Pro106=
XM_017014931.1:c.359+847G>A XP_016870420.1:n.359+847G>A
XM_017014932.1:c.165G>A XP_016870421.1:p.Pro55=
XM_017014933.1:c.-86+847G>A XP_016870422.1:n.-86+847G>A
XM_024447617.1:c.-103G>A XP_024303385.1:n.-103G>A
XM_024447618.1:c.-103G>A XP_024303386.1:n.-103G>A