Canonical Allele Identifier: CA375506041

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2949714
• ClinVar RCV Id: RCV003804880
• dbSNP Id: rs774588571
• gnomAD v4: 9-135770048-C-A
• MyVariant Identifiers: chr9:g.138661894C>A (hg19) ; chr9:g.135770048C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770048C>A , CM000671.2:g.135770048C>A	GRCh38
NC_000009.11:g.138661894C>A , CM000671.1:g.138661894C>A	GRCh37
NC_000009.10:g.137801715C>A	NCBI36
NG_033070.1:g.72864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1612C>A MANE Select	ENSP00000360822.2:p.Arg538Ser
ENST00000674572.1:c.1453C>A	ENSP00000501742.1:p.Arg485Ser
ENST00000675090.1:c.1360C>A	ENSP00000501833.1:p.Arg454Ser
ENST00000675399.1:c.1360C>A	ENSP00000501932.1:p.Arg454Ser
ENST00000676421.1:c.1369C>A	ENSP00000502322.1:p.Arg457Ser
ENST00000263604.5:c.1513C>A	ENSP00000263604.4:p.Arg505Ser
ENST00000371757.6:c.1612C>A	ENSP00000360822.2:p.Arg538Ser
ENST00000460750.5:c.*1222C>A	ENSP00000418777.1:n.*1222C>A
ENST00000486577.6:c.1495C>A	ENSP00000417578.3:p.Arg499Ser
ENST00000487664.5:c.1612C>A	ENSP00000417851.2:p.Arg538Ser
ENST00000488444.6:c.1555C>A	ENSP00000419007.3:p.Arg519Ser
ENST00000490355.6:c.1555C>A	ENSP00000418003.3:p.Arg519Ser
ENST00000490363.3:n.1431C>A
ENST00000491806.6:c.1555C>A	ENSP00000419086.3:p.Arg519Ser
ENST00000628528.2:c.1477C>A	ENSP00000486374.1:p.Arg493Ser
ENST00000630792.2:c.1453C>A	ENSP00000486486.1:p.Arg485Ser
ENST00000631073.2:c.1555C>A	ENSP00000486130.1:p.Arg519Ser
NM_001272003.1:c.1477C>A	NP_001258932.1:p.Arg493Ser
NM_020822.2:c.1612C>A	NP_065873.2:p.Arg538Ser
XM_011518877.1:c.1747C>A	XP_011517179.1:p.Arg583Ser
XM_011518878.1:c.1756C>A	XP_011517180.1:p.Arg586Ser
XM_011518879.1:c.1747C>A	XP_011517181.1:p.Arg583Ser
XM_011518880.1:c.1513C>A	XP_011517182.1:p.Arg505Ser
XM_011518881.1:c.1102C>A	XP_011517183.1:p.Arg368Ser
XM_011518877.3:c.1747C>A	XP_011517179.1:p.Arg583Ser
XM_011518878.3:c.1756C>A	XP_011517180.1:p.Arg586Ser
XM_011518879.3:c.1747C>A	XP_011517181.1:p.Arg583Ser
XM_011518881.3:c.1102C>A	XP_011517183.1:p.Arg368Ser
XM_017014931.1:c.1546C>A	XP_016870420.1:p.Arg516Ser
XM_017014932.1:c.1369C>A	XP_016870421.1:p.Arg457Ser
XM_017014933.1:c.1102C>A	XP_016870422.1:p.Arg368Ser
XM_024447617.1:c.1102C>A	XP_024303385.1:p.Arg368Ser
XM_024447618.1:c.1102C>A	XP_024303386.1:p.Arg368Ser
NM_020822.3:c.1612C>A MANE Select	NP_065873.2:p.Arg538Ser
NM_001272003.2:c.1477C>A	NP_001258932.1:p.Arg493Ser