Canonical Allele Identifier: CA347129

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 183028
• ClinVar RCV Id: RCV000192060
• dbSNP Id: rs797044544
• MyVariant Identifiers: chr9:g.138670627G>A (hg19) ; chr9:g.135778781G>A (hg38)
• PubMed: PMID:20301348 ; PMID:23086396

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135778781G>A , CM000671.2:g.135778781G>A	GRCh38
NC_000009.11:g.138670627G>A , CM000671.1:g.138670627G>A	GRCh37
NC_000009.10:g.137810448G>A	NCBI36
NG_033070.1:g.81597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2688G>A MANE Select	ENSP00000360822.2:p.Met896Ile
ENST00000674572.1:c.2529G>A	ENSP00000501742.1:p.Met843Ile
ENST00000675090.1:c.2436G>A	ENSP00000501833.1:p.Met812Ile
ENST00000675102.1:n.1222G>A
ENST00000675399.1:c.2436G>A	ENSP00000501932.1:p.Met812Ile
ENST00000676421.1:c.2445G>A	ENSP00000502322.1:p.Met815Ile
ENST00000263604.5:c.2589G>A	ENSP00000263604.4:p.Met863Ile
ENST00000371757.6:c.2688G>A	ENSP00000360822.2:p.Met896Ile
ENST00000460750.5:c.*2298G>A	ENSP00000418777.1:n.*2298G>A
ENST00000486577.6:c.2571G>A	ENSP00000417578.3:p.Met857Ile
ENST00000487664.5:c.2688G>A	ENSP00000417851.2:p.Met896Ile
ENST00000488444.6:c.2631G>A	ENSP00000419007.3:p.Met877Ile
ENST00000490355.6:c.2625G>A	ENSP00000418003.3:p.Met875Ile
ENST00000490363.3:n.2507G>A
ENST00000491806.6:c.2631G>A	ENSP00000419086.3:p.Met877Ile
ENST00000628528.2:c.2553G>A	ENSP00000486374.1:p.Met851Ile
ENST00000630792.2:c.2523G>A	ENSP00000486486.1:p.Met841Ile
ENST00000631073.2:c.2631G>A	ENSP00000486130.1:p.Met877Ile
ENST00000631193.1:c.554G>A	ENSP00000486830.1:n.554G>A
NM_001272003.1:c.2553G>A	NP_001258932.1:p.Met851Ile
NM_020822.2:c.2688G>A	NP_065873.2:p.Met896Ile
XM_011518877.1:c.2823G>A	XP_011517179.1:p.Met941Ile
XM_011518878.1:c.2832G>A	XP_011517180.1:p.Met944Ile
XM_011518879.1:c.2823G>A	XP_011517181.1:p.Met941Ile
XM_011518880.1:c.2589G>A	XP_011517182.1:p.Met863Ile
XM_011518881.1:c.2178G>A	XP_011517183.1:p.Met726Ile
XM_011518877.3:c.2823G>A	XP_011517179.1:p.Met941Ile
XM_011518878.3:c.2832G>A	XP_011517180.1:p.Met944Ile
XM_011518879.3:c.2823G>A	XP_011517181.1:p.Met941Ile
XM_011518881.3:c.2178G>A	XP_011517183.1:p.Met726Ile
XM_017014931.1:c.2622G>A	XP_016870420.1:p.Met874Ile
XM_017014932.1:c.2445G>A	XP_016870421.1:p.Met815Ile
XM_017014933.1:c.2178G>A	XP_016870422.1:p.Met726Ile
XM_024447617.1:c.2178G>A	XP_024303385.1:p.Met726Ile
XM_024447618.1:c.2178G>A	XP_024303386.1:p.Met726Ile
NM_020822.3:c.2688G>A MANE Select	NP_065873.2:p.Met896Ile
NM_001272003.2:c.2553G>A	NP_001258932.1:p.Met851Ile