Canonical Allele Identifier: CA375501511

Gene: KCNT1

Linked Data

• dbSNP Id: rs1832217800
• gnomAD v4: 9-135765700-C-G
• MyVariant Identifiers: chr9:g.138657546C>G (hg19) ; chr9:g.135765700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765700C>G , CM000671.2:g.135765700C>G	GRCh38
NC_000009.11:g.138657546C>G , CM000671.1:g.138657546C>G	GRCh37
NC_000009.10:g.137797367C>G	NCBI36
NG_033070.1:g.68516C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1277C>G MANE Select	ENSP00000360822.2:p.Ser426Cys
ENST00000636995.1:n.4C>G
ENST00000637798.1:n.16C>G
ENST00000674572.1:c.1118C>G	ENSP00000501742.1:p.Ser373Cys
ENST00000675090.1:c.1025C>G	ENSP00000501833.1:p.Ser342Cys
ENST00000675399.1:c.1025C>G	ENSP00000501932.1:p.Ser342Cys
ENST00000676421.1:c.1034C>G	ENSP00000502322.1:p.Ser345Cys
ENST00000263604.5:c.1178C>G	ENSP00000263604.4:p.Ser393Cys
ENST00000371757.6:c.1277C>G	ENSP00000360822.2:p.Ser426Cys
ENST00000460750.5:c.*887C>G	ENSP00000418777.1:n.*887C>G
ENST00000486577.6:c.1160C>G	ENSP00000417578.3:p.Ser387Cys
ENST00000487664.5:c.1277C>G	ENSP00000417851.2:p.Ser426Cys
ENST00000488444.6:c.1220C>G	ENSP00000419007.3:p.Ser407Cys
ENST00000490355.6:c.1220C>G	ENSP00000418003.3:p.Ser407Cys
ENST00000490363.3:n.1096C>G
ENST00000491806.6:c.1220C>G	ENSP00000419086.3:p.Ser407Cys
ENST00000628528.2:c.1142C>G	ENSP00000486374.1:p.Ser381Cys
ENST00000630792.2:c.1118C>G	ENSP00000486486.1:p.Ser373Cys
ENST00000631073.2:c.1220C>G	ENSP00000486130.1:p.Ser407Cys
NM_001272003.1:c.1142C>G	NP_001258932.1:p.Ser381Cys
NM_020822.2:c.1277C>G	NP_065873.2:p.Ser426Cys
XM_011518877.1:c.1412C>G	XP_011517179.1:p.Ser471Cys
XM_011518878.1:c.1421C>G	XP_011517180.1:p.Ser474Cys
XM_011518879.1:c.1412C>G	XP_011517181.1:p.Ser471Cys
XM_011518880.1:c.1178C>G	XP_011517182.1:p.Ser393Cys
XM_011518881.1:c.767C>G	XP_011517183.1:p.Ser256Cys
XM_011518877.3:c.1412C>G	XP_011517179.1:p.Ser471Cys
XM_011518878.3:c.1421C>G	XP_011517180.1:p.Ser474Cys
XM_011518879.3:c.1412C>G	XP_011517181.1:p.Ser471Cys
XM_011518881.3:c.767C>G	XP_011517183.1:p.Ser256Cys
XM_017014931.1:c.1211C>G	XP_016870420.1:p.Ser404Cys
XM_017014932.1:c.1034C>G	XP_016870421.1:p.Ser345Cys
XM_017014933.1:c.767C>G	XP_016870422.1:p.Ser256Cys
XM_024447617.1:c.767C>G	XP_024303385.1:p.Ser256Cys
XM_024447618.1:c.767C>G	XP_024303386.1:p.Ser256Cys
NM_020822.3:c.1277C>G MANE Select	NP_065873.2:p.Ser426Cys
NM_001272003.2:c.1142C>G	NP_001258932.1:p.Ser381Cys