Canonical Allele Identifier: CA375501810

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657591A>C (hg19) ; chr9:g.135765745A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765745A>C , CM000671.2:g.135765745A>C	GRCh38
NC_000009.11:g.138657591A>C , CM000671.1:g.138657591A>C	GRCh37
NC_000009.10:g.137797412A>C	NCBI36
NG_033070.1:g.68561A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1322A>C MANE Select	ENSP00000360822.2:p.Asp441Ala
ENST00000636003.1:c.12A>C
ENST00000636995.1:n.49A>C
ENST00000637798.1:n.61A>C
ENST00000674572.1:c.1163A>C	ENSP00000501742.1:p.Asp388Ala
ENST00000675090.1:c.1070A>C	ENSP00000501833.1:p.Asp357Ala
ENST00000675399.1:c.1070A>C	ENSP00000501932.1:p.Asp357Ala
ENST00000676421.1:c.1079A>C	ENSP00000502322.1:p.Asp360Ala
ENST00000263604.5:c.1223A>C	ENSP00000263604.4:p.Asp408Ala
ENST00000371757.6:c.1322A>C	ENSP00000360822.2:p.Asp441Ala
ENST00000460750.5:c.*932A>C	ENSP00000418777.1:n.*932A>C
ENST00000486577.6:c.1205A>C	ENSP00000417578.3:p.Asp402Ala
ENST00000487664.5:c.1322A>C	ENSP00000417851.2:p.Asp441Ala
ENST00000488444.6:c.1265A>C	ENSP00000419007.3:p.Asp422Ala
ENST00000490355.6:c.1265A>C	ENSP00000418003.3:p.Asp422Ala
ENST00000490363.3:n.1141A>C
ENST00000491806.6:c.1265A>C	ENSP00000419086.3:p.Asp422Ala
ENST00000628528.2:c.1187A>C	ENSP00000486374.1:p.Asp396Ala
ENST00000630792.2:c.1163A>C	ENSP00000486486.1:p.Asp388Ala
ENST00000631073.2:c.1265A>C	ENSP00000486130.1:p.Asp422Ala
NM_001272003.1:c.1187A>C	NP_001258932.1:p.Asp396Ala
NM_020822.2:c.1322A>C	NP_065873.2:p.Asp441Ala
XM_011518877.1:c.1457A>C	XP_011517179.1:p.Asp486Ala
XM_011518878.1:c.1466A>C	XP_011517180.1:p.Asp489Ala
XM_011518879.1:c.1457A>C	XP_011517181.1:p.Asp486Ala
XM_011518880.1:c.1223A>C	XP_011517182.1:p.Asp408Ala
XM_011518881.1:c.812A>C	XP_011517183.1:p.Asp271Ala
XM_011518877.3:c.1457A>C	XP_011517179.1:p.Asp486Ala
XM_011518878.3:c.1466A>C	XP_011517180.1:p.Asp489Ala
XM_011518879.3:c.1457A>C	XP_011517181.1:p.Asp486Ala
XM_011518881.3:c.812A>C	XP_011517183.1:p.Asp271Ala
XM_017014931.1:c.1256A>C	XP_016870420.1:p.Asp419Ala
XM_017014932.1:c.1079A>C	XP_016870421.1:p.Asp360Ala
XM_017014933.1:c.812A>C	XP_016870422.1:p.Asp271Ala
XM_024447617.1:c.812A>C	XP_024303385.1:p.Asp271Ala
XM_024447618.1:c.812A>C	XP_024303386.1:p.Asp271Ala
NM_020822.3:c.1322A>C MANE Select	NP_065873.2:p.Asp441Ala
NM_001272003.2:c.1187A>C	NP_001258932.1:p.Asp396Ala