Canonical Allele Identifier: CA243474
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196502
ClinVar RCV Id: RCV000177321
dbSNP Id: rs752032951

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135750142G>A , CM000671.2:g.135750142G>A GRCh38
NC_000009.11:g.138641988G>A , CM000671.1:g.138641988G>A GRCh37
NC_000009.10:g.137781809G>A NCBI36
NG_033070.1:g.52958G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.299G>A MANE Select ENSP00000360822.2:p.Arg100Gln
ENST00000637018.1:n.104G>A
ENST00000638123.1:n.34G>A
ENST00000674572.1:c.140G>A ENSP00000501742.1:p.Arg47Gln
ENST00000675090.1:c.47G>A ENSP00000501833.1:p.Arg16Gln
ENST00000675399.1:c.47G>A ENSP00000501932.1:p.Arg16Gln
ENST00000676421.1:c.47G>A ENSP00000502322.1:p.Arg16Gln
ENST00000263604.5:c.200G>A ENSP00000263604.4:p.Arg67Gln
ENST00000371757.6:c.299G>A ENSP00000360822.2:p.Arg100Gln
ENST00000460750.5:c.299G>A ENSP00000418777.1:p.Arg100Gln
ENST00000473941.5:c.140G>A ENSP00000420764.1:p.Arg47Gln
ENST00000486577.6:c.182G>A ENSP00000417578.3:p.Arg61Gln
ENST00000487664.5:c.299G>A ENSP00000417851.2:p.Arg100Gln
ENST00000488444.6:c.242G>A ENSP00000419007.3:p.Arg81Gln
ENST00000490355.6:n.242G>A ENSP00000418003.3:p.Arg81Gln
ENST00000491806.6:c.242G>A ENSP00000419086.3:p.Arg81Gln
ENST00000628528.2:c.155G>A ENSP00000486374.1:p.Arg52Gln
ENST00000630792.2:n.140G>A ENSP00000486486.1:p.Arg47Gln
ENST00000631073.2:c.242G>A ENSP00000486130.1:p.Arg81Gln
NM_001272003.1:c.155G>A NP_001258932.1:p.Arg52Gln
NM_020822.2:c.299G>A NP_065873.2:p.Arg100Gln
XM_011518877.1:c.434G>A XP_011517179.1:p.Arg145Gln
XM_011518878.1:c.434G>A XP_011517180.1:p.Arg145Gln
XM_011518879.1:c.434G>A XP_011517181.1:p.Arg145Gln
XM_011518880.1:n.200G>A XP_011517182.1:p.Arg67Gln
XM_011518877.3:c.434G>A XP_011517179.1:p.Arg145Gln
XM_011518878.3:c.434G>A XP_011517180.1:p.Arg145Gln
XM_011518879.3:c.434G>A XP_011517181.1:p.Arg145Gln
XM_017014931.1:c.324G>A XP_016870420.1:p.Ala108=
XM_017014932.1:c.47G>A XP_016870421.1:p.Arg16Gln
XM_017014933.1:c.-121G>A XP_016870422.1:p.=
XM_024447617.1:c.-221G>A XP_024303385.1:p.=
XM_024447618.1:c.-221G>A XP_024303386.1:p.=
NM_020822.3:c.299G>A MANE Select NP_065873.2:p.Arg100Gln
NM_001272003.2:c.155G>A NP_001258932.1:p.Arg52Gln