Canonical Allele Identifier: CA375506055

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 998535
• ClinVar RCV Id: RCV001294406 ; RCV002543027
• dbSNP Id: rs1446587740
• gnomAD v2: 9-138661901-A-G
• gnomAD v3: 9-135770055-A-G
• gnomAD v4: 9-135770055-A-G
• MyVariant Identifiers: chr9:g.138661901A>G (hg19) ; chr9:g.135770055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770055A>G , CM000671.2:g.135770055A>G	GRCh38
NC_000009.11:g.138661901A>G , CM000671.1:g.138661901A>G	GRCh37
NC_000009.10:g.137801722A>G	NCBI36
NG_033070.1:g.72871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1619A>G MANE Select	ENSP00000360822.2:p.Gln540Arg
ENST00000674572.1:c.1460A>G	ENSP00000501742.1:p.Gln487Arg
ENST00000675090.1:c.1367A>G	ENSP00000501833.1:p.Gln456Arg
ENST00000675399.1:c.1367A>G	ENSP00000501932.1:p.Gln456Arg
ENST00000676421.1:c.1376A>G	ENSP00000502322.1:p.Gln459Arg
ENST00000263604.5:c.1520A>G	ENSP00000263604.4:p.Gln507Arg
ENST00000371757.6:c.1619A>G	ENSP00000360822.2:p.Gln540Arg
ENST00000460750.5:c.*1229A>G	ENSP00000418777.1:n.*1229A>G
ENST00000486577.6:c.1502A>G	ENSP00000417578.3:p.Gln501Arg
ENST00000487664.5:c.1619A>G	ENSP00000417851.2:p.Gln540Arg
ENST00000488444.6:c.1562A>G	ENSP00000419007.3:p.Gln521Arg
ENST00000490355.6:c.1562A>G	ENSP00000418003.3:p.Gln521Arg
ENST00000490363.3:n.1438A>G
ENST00000491806.6:c.1562A>G	ENSP00000419086.3:p.Gln521Arg
ENST00000628528.2:c.1484A>G	ENSP00000486374.1:p.Gln495Arg
ENST00000630792.2:c.1460A>G	ENSP00000486486.1:p.Gln487Arg
ENST00000631073.2:c.1562A>G	ENSP00000486130.1:p.Gln521Arg
NM_001272003.1:c.1484A>G	NP_001258932.1:p.Gln495Arg
NM_020822.2:c.1619A>G	NP_065873.2:p.Gln540Arg
XM_011518877.1:c.1754A>G	XP_011517179.1:p.Gln585Arg
XM_011518878.1:c.1763A>G	XP_011517180.1:p.Gln588Arg
XM_011518879.1:c.1754A>G	XP_011517181.1:p.Gln585Arg
XM_011518880.1:c.1520A>G	XP_011517182.1:p.Gln507Arg
XM_011518881.1:c.1109A>G	XP_011517183.1:p.Gln370Arg
XM_011518877.3:c.1754A>G	XP_011517179.1:p.Gln585Arg
XM_011518878.3:c.1763A>G	XP_011517180.1:p.Gln588Arg
XM_011518879.3:c.1754A>G	XP_011517181.1:p.Gln585Arg
XM_011518881.3:c.1109A>G	XP_011517183.1:p.Gln370Arg
XM_017014931.1:c.1553A>G	XP_016870420.1:p.Gln518Arg
XM_017014932.1:c.1376A>G	XP_016870421.1:p.Gln459Arg
XM_017014933.1:c.1109A>G	XP_016870422.1:p.Gln370Arg
XM_024447617.1:c.1109A>G	XP_024303385.1:p.Gln370Arg
XM_024447618.1:c.1109A>G	XP_024303386.1:p.Gln370Arg
NM_020822.3:c.1619A>G MANE Select	NP_065873.2:p.Gln540Arg
NM_001272003.2:c.1484A>G	NP_001258932.1:p.Gln495Arg