Canonical Allele Identifier: CA375501635

Gene: KCNT1

Linked Data

• dbSNP Id: rs1564363269
• gnomAD v4: 9-135765720-C-T
• MyVariant Identifiers: chr9:g.138657566C>T (hg19) ; chr9:g.135765720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765720C>T , CM000671.2:g.135765720C>T	GRCh38
NC_000009.11:g.138657566C>T , CM000671.1:g.138657566C>T	GRCh37
NC_000009.10:g.137797387C>T	NCBI36
NG_033070.1:g.68536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1297C>T MANE Select	ENSP00000360822.2:p.Gln433Ter
ENST00000636995.1:n.24C>T
ENST00000637798.1:n.36C>T
ENST00000674572.1:c.1138C>T	ENSP00000501742.1:p.Gln380Ter
ENST00000675090.1:c.1045C>T	ENSP00000501833.1:p.Gln349Ter
ENST00000675399.1:c.1045C>T	ENSP00000501932.1:p.Gln349Ter
ENST00000676421.1:c.1054C>T	ENSP00000502322.1:p.Gln352Ter
ENST00000263604.5:c.1198C>T	ENSP00000263604.4:p.Gln400Ter
ENST00000371757.6:c.1297C>T	ENSP00000360822.2:p.Gln433Ter
ENST00000460750.5:c.*907C>T	ENSP00000418777.1:n.*907C>T
ENST00000486577.6:c.1180C>T	ENSP00000417578.3:p.Gln394Ter
ENST00000487664.5:c.1297C>T	ENSP00000417851.2:p.Gln433Ter
ENST00000488444.6:c.1240C>T	ENSP00000419007.3:p.Gln414Ter
ENST00000490355.6:c.1240C>T	ENSP00000418003.3:p.Gln414Ter
ENST00000490363.3:n.1116C>T
ENST00000491806.6:c.1240C>T	ENSP00000419086.3:p.Gln414Ter
ENST00000628528.2:c.1162C>T	ENSP00000486374.1:p.Gln388Ter
ENST00000630792.2:c.1138C>T	ENSP00000486486.1:p.Gln380Ter
ENST00000631073.2:c.1240C>T	ENSP00000486130.1:p.Gln414Ter
NM_001272003.1:c.1162C>T	NP_001258932.1:p.Gln388Ter
NM_020822.2:c.1297C>T	NP_065873.2:p.Gln433Ter
XM_011518877.1:c.1432C>T	XP_011517179.1:p.Gln478Ter
XM_011518878.1:c.1441C>T	XP_011517180.1:p.Gln481Ter
XM_011518879.1:c.1432C>T	XP_011517181.1:p.Gln478Ter
XM_011518880.1:c.1198C>T	XP_011517182.1:p.Gln400Ter
XM_011518881.1:c.787C>T	XP_011517183.1:p.Gln263Ter
XM_011518877.3:c.1432C>T	XP_011517179.1:p.Gln478Ter
XM_011518878.3:c.1441C>T	XP_011517180.1:p.Gln481Ter
XM_011518879.3:c.1432C>T	XP_011517181.1:p.Gln478Ter
XM_011518881.3:c.787C>T	XP_011517183.1:p.Gln263Ter
XM_017014931.1:c.1231C>T	XP_016870420.1:p.Gln411Ter
XM_017014932.1:c.1054C>T	XP_016870421.1:p.Gln352Ter
XM_017014933.1:c.787C>T	XP_016870422.1:p.Gln263Ter
XM_024447617.1:c.787C>T	XP_024303385.1:p.Gln263Ter
XM_024447618.1:c.787C>T	XP_024303386.1:p.Gln263Ter
NM_020822.3:c.1297C>T MANE Select	NP_065873.2:p.Gln433Ter
NM_001272003.2:c.1162C>T	NP_001258932.1:p.Gln388Ter