Canonical Allele Identifier: CA375493360

Gene: KCNT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135714662C>G , CM000671.2:g.135714662C>G	GRCh38
NC_000009.11:g.138606508C>G , CM000671.1:g.138606508C>G	GRCh37
NC_000009.10:g.137746329C>G	NCBI36
NG_033070.1:g.17478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.196C>G MANE Select	ENSP00000360822.2:p.Pro66Ala
ENST00000674572.1:c.37C>G	ENSP00000501742.1:p.Pro13Ala
ENST00000371757.6:c.196C>G	ENSP00000360822.2:p.Pro66Ala
ENST00000460750.5:c.196C>G	ENSP00000418777.1:p.Pro66Ala
ENST00000473941.5:c.37C>G	ENSP00000420764.1:p.Pro13Ala
ENST00000486577.6:c.37C>G	ENSP00000417578.3:p.Pro13Ala
ENST00000487664.5:c.196C>G	ENSP00000417851.2:p.Pro66Ala
ENST00000628528.2:c.110+12294C>G	ENSP00000486374.1:n.110+12294C>G
ENST00000630792.2:c.37C>G	ENSP00000486486.1:p.Pro13Ala
NM_001272003.1:c.110+12294C>G	NP_001258932.1:n.110+12294C>G
NM_020822.2:c.196C>G	NP_065873.2:p.Pro66Ala
XM_011518877.1:c.331C>G	XP_011517179.1:p.Pro111Ala
XM_011518878.1:c.331C>G	XP_011517180.1:p.Pro111Ala
XM_011518879.1:c.331C>G	XP_011517181.1:p.Pro111Ala
XM_011518877.3:c.331C>G	XP_011517179.1:p.Pro111Ala
XM_011518878.3:c.331C>G	XP_011517180.1:p.Pro111Ala
XM_011518879.3:c.331C>G	XP_011517181.1:p.Pro111Ala
NM_020822.3:c.196C>G MANE Select	NP_065873.2:p.Pro66Ala
NM_001272003.2:c.110+12294C>G	NP_001258932.1:n.110+12294C>G