Canonical Allele Identifier: CA375499952
Gene: KCNT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765069G>C , CM000671.2:g.135765069G>C GRCh38
NC_000009.11:g.138656915G>C , CM000671.1:g.138656915G>C GRCh37
NC_000009.10:g.137796736G>C NCBI36
NG_033070.1:g.67885G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1074G>C MANE Select ENSP00000360822.2:p.Lys358Asn
ENST00000674572.1:c.915G>C ENSP00000501742.1:p.Lys305Asn
ENST00000675090.1:c.822G>C ENSP00000501833.1:p.Lys274Asn
ENST00000675399.1:c.822G>C ENSP00000501932.1:p.Lys274Asn
ENST00000676421.1:c.831G>C ENSP00000502322.1:p.Lys277Asn
ENST00000263604.5:c.975G>C ENSP00000263604.4:p.Lys325Asn
ENST00000371757.6:c.1074G>C ENSP00000360822.2:p.Lys358Asn
ENST00000460750.5:c.*684G>C ENSP00000418777.1:n.*684G>C
ENST00000486577.6:c.957G>C ENSP00000417578.3:p.Lys319Asn
ENST00000487664.5:c.1074G>C ENSP00000417851.2:p.Lys358Asn
ENST00000488444.6:c.1017G>C ENSP00000419007.3:p.Lys339Asn
ENST00000490355.6:c.1017G>C ENSP00000418003.3:p.Lys339Asn
ENST00000490363.3:n.893G>C
ENST00000491806.6:c.1017G>C ENSP00000419086.3:p.Lys339Asn
ENST00000628528.2:c.939G>C ENSP00000486374.1:p.Lys313Asn
ENST00000630792.2:c.915G>C ENSP00000486486.1:p.Lys305Asn
ENST00000631073.2:c.1017G>C ENSP00000486130.1:p.Lys339Asn
NM_001272003.1:c.939G>C NP_001258932.1:p.Lys313Asn
NM_020822.2:c.1074G>C NP_065873.2:p.Lys358Asn
XM_011518877.1:c.1209G>C XP_011517179.1:p.Lys403Asn
XM_011518878.1:c.1218G>C XP_011517180.1:p.Lys406Asn
XM_011518879.1:c.1209G>C XP_011517181.1:p.Lys403Asn
XM_011518880.1:c.975G>C XP_011517182.1:p.Lys325Asn
XM_011518881.1:c.564G>C XP_011517183.1:p.Lys188Asn
XM_011518877.3:c.1209G>C XP_011517179.1:p.Lys403Asn
XM_011518878.3:c.1218G>C XP_011517180.1:p.Lys406Asn
XM_011518879.3:c.1209G>C XP_011517181.1:p.Lys403Asn
XM_011518881.3:c.564G>C XP_011517183.1:p.Lys188Asn
XM_017014931.1:c.1008G>C XP_016870420.1:p.Lys336Asn
XM_017014932.1:c.831G>C XP_016870421.1:p.Lys277Asn
XM_017014933.1:c.564G>C XP_016870422.1:p.Lys188Asn
XM_024447617.1:c.564G>C XP_024303385.1:p.Lys188Asn
XM_024447618.1:c.564G>C XP_024303386.1:p.Lys188Asn
NM_020822.3:c.1074G>C MANE Select NP_065873.2:p.Lys358Asn
NM_001272003.2:c.939G>C NP_001258932.1:p.Lys313Asn