Canonical Allele Identifier: CA1883846567
Community Standard Title: NM_020822.3(KCNT1):c.136C= (p.Leu46=)
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135714602C= , CM000671.2:g.135714602C= GRCh38
NC_000009.11:g.138606448C= , CM000671.1:g.138606448C= GRCh37
NC_000009.10:g.137746269C= NCBI36
NG_033070.1:g.17418C=

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.136C= MANE Select NP_065873.2:p.Leu46=
ENST00000371757.7:c.136C= MANE Select ENSP00000360822.2:p.Leu46=
NM_001272003.1:c.110+12234C= NP_001258932.1:n.110+12234C=
NM_001272003.2:c.110+12234C= NP_001258932.1:n.110+12234C=
NM_020822.2:c.136C= NP_065873.2:p.Leu46=
ENST00000371757.6:c.136C= ENSP00000360822.2:p.Leu46=
ENST00000460750.5:c.136C= ENSP00000418777.1:p.Leu46=
ENST00000473941.5:c.-24C= ENSP00000420764.1:n.-24C=
ENST00000486577.6:c.-24C= ENSP00000417578.3:n.-24C=
ENST00000487664.5:c.136C= ENSP00000417851.2:p.Leu46=
ENST00000628528.2:c.110+12234C= ENSP00000486374.1:n.110+12234C=
ENST00000636613.1:n.92C=
ENST00000674572.1:c.-24C= ENSP00000501742.1:n.-24C=
XM_011518877.1:c.271C= XP_011517179.1:p.Leu91=
XM_011518877.3:c.271C= XP_011517179.1:p.Leu91=
XM_011518878.1:c.271C= XP_011517180.1:p.Leu91=
XM_011518878.3:c.271C= XP_011517180.1:p.Leu91=
XM_011518879.1:c.271C= XP_011517181.1:p.Leu91=
XM_011518879.3:c.271C= XP_011517181.1:p.Leu91=