Canonical Allele Identifier: CA375491663
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135786309G>C , CM000671.2:g.135786309G>C GRCh38
NC_000009.11:g.138678155G>C , CM000671.1:g.138678155G>C GRCh37
NC_000009.10:g.137817976G>C NCBI36
NG_033070.1:g.89125G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.3290G>C MANE Select ENSP00000360822.2:p.Gly1097Ala
ENST00000674572.1:c.3131G>C ENSP00000501742.1:p.Gly1044Ala
ENST00000675090.1:c.3038G>C ENSP00000501833.1:p.Gly1013Ala
ENST00000675399.1:c.3038G>C ENSP00000501932.1:p.Gly1013Ala
ENST00000676421.1:c.3047G>C ENSP00000502322.1:p.Gly1016Ala
ENST00000263604.5:c.3191G>C ENSP00000263604.4:p.Gly1064Ala
ENST00000371757.6:c.3290G>C ENSP00000360822.2:p.Gly1097Ala
ENST00000460750.5:c.*2900G>C ENSP00000418777.1:n.*2900G>C
ENST00000486577.6:c.3173G>C ENSP00000417578.3:p.Gly1058Ala
ENST00000487664.5:c.3290G>C ENSP00000417851.2:p.Gly1097Ala
ENST00000488444.6:c.3212G>C ENSP00000419007.3:p.Gly1071Ala
ENST00000490355.6:c.3227G>C ENSP00000418003.3:p.Gly1076Ala
ENST00000490363.3:n.3975G>C
ENST00000491806.6:c.3233G>C ENSP00000419086.3:p.Gly1078Ala
ENST00000628528.2:c.3155G>C ENSP00000486374.1:p.Gly1052Ala
ENST00000630792.2:c.3125G>C ENSP00000486486.1:p.Gly1042Ala
ENST00000631073.2:c.3233G>C ENSP00000486130.1:p.Gly1078Ala
NM_001272003.1:c.3155G>C NP_001258932.1:p.Gly1052Ala
NM_020822.2:c.3290G>C NP_065873.2:p.Gly1097Ala
XM_011518877.1:c.3425G>C XP_011517179.1:p.Gly1142Ala
XM_011518878.1:c.3434G>C XP_011517180.1:p.Gly1145Ala
XM_011518879.1:c.3425G>C XP_011517181.1:p.Gly1142Ala
XM_011518880.1:c.3191G>C XP_011517182.1:p.Gly1064Ala
XM_011518881.1:c.2780G>C XP_011517183.1:p.Gly927Ala
XM_011518877.3:c.3425G>C XP_011517179.1:p.Gly1142Ala
XM_011518878.3:c.3434G>C XP_011517180.1:p.Gly1145Ala
XM_011518879.3:c.3425G>C XP_011517181.1:p.Gly1142Ala
XM_011518881.3:c.2780G>C XP_011517183.1:p.Gly927Ala
XM_017014931.1:c.3224G>C XP_016870420.1:p.Gly1075Ala
XM_017014932.1:c.3047G>C XP_016870421.1:p.Gly1016Ala
XM_017014933.1:c.2780G>C XP_016870422.1:p.Gly927Ala
XM_024447617.1:c.2780G>C XP_024303385.1:p.Gly927Ala
XM_024447618.1:c.2780G>C XP_024303386.1:p.Gly927Ala
NM_020822.3:c.3290G>C MANE Select NP_065873.2:p.Gly1097Ala
NM_001272003.2:c.3155G>C NP_001258932.1:p.Gly1052Ala