Canonical Allele Identifier: CA375493314
Gene: KCNT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135714639A>G , CM000671.2:g.135714639A>G GRCh38
NC_000009.11:g.138606485A>G , CM000671.1:g.138606485A>G GRCh37
NC_000009.10:g.137746306A>G NCBI36
NG_033070.1:g.17455A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020822.3:c.173A>G MANE Select NP_065873.2:p.Asp58Gly
ENST00000371757.7:c.173A>G MANE Select ENSP00000360822.2:p.Asp58Gly
NM_001272003.1:c.110+12271A>G NP_001258932.1:n.110+12271A>G
NM_001272003.2:c.110+12271A>G NP_001258932.1:n.110+12271A>G
NM_020822.2:c.173A>G NP_065873.2:p.Asp58Gly
ENST00000371757.6:c.173A>G ENSP00000360822.2:p.Asp58Gly
ENST00000460750.5:c.173A>G ENSP00000418777.1:p.Asp58Gly
ENST00000473941.5:c.14A>G ENSP00000420764.1:p.Asp5Gly
ENST00000486577.6:c.14A>G ENSP00000417578.3:p.Asp5Gly
ENST00000487664.5:c.173A>G ENSP00000417851.2:p.Asp58Gly
ENST00000628528.2:c.110+12271A>G ENSP00000486374.1:n.110+12271A>G
ENST00000630792.2:c.14A>G ENSP00000486486.1:p.Asp5Gly
ENST00000674572.1:c.14A>G ENSP00000501742.1:p.Asp5Gly
XM_011518877.1:c.308A>G XP_011517179.1:p.Asp103Gly
XM_011518877.3:c.308A>G XP_011517179.1:p.Asp103Gly
XM_011518878.1:c.308A>G XP_011517180.1:p.Asp103Gly
XM_011518878.3:c.308A>G XP_011517180.1:p.Asp103Gly
XM_011518879.1:c.308A>G XP_011517181.1:p.Asp103Gly
XM_011518879.3:c.308A>G XP_011517181.1:p.Asp103Gly