Canonical Allele Identifier: CA375501149

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2182544
• ClinVar RCV Id: RCV002610907
• dbSNP Id: rs1280857652
• gnomAD v2: 9-138657493-C-A
• gnomAD v4: 9-135765647-C-A
• COSMIC: COSM4884826 ; COSM4884827
• MyVariant Identifiers: chr9:g.138657493C>A (hg19) ; chr9:g.135765647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765647C>A , CM000671.2:g.135765647C>A	GRCh38
NC_000009.11:g.138657493C>A , CM000671.1:g.138657493C>A	GRCh37
NC_000009.10:g.137797314C>A	NCBI36
NG_033070.1:g.68463C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1224C>A MANE Select	ENSP00000360822.2:p.Cys408Ter
ENST00000674572.1:c.1065C>A	ENSP00000501742.1:p.Cys355Ter
ENST00000675090.1:c.972C>A	ENSP00000501833.1:p.Cys324Ter
ENST00000675399.1:c.972C>A	ENSP00000501932.1:p.Cys324Ter
ENST00000676421.1:c.981C>A	ENSP00000502322.1:p.Cys327Ter
ENST00000263604.5:c.1125C>A	ENSP00000263604.4:p.Cys375Ter
ENST00000371757.6:c.1224C>A	ENSP00000360822.2:p.Cys408Ter
ENST00000460750.5:c.*834C>A	ENSP00000418777.1:n.*834C>A
ENST00000486577.6:c.1107C>A	ENSP00000417578.3:p.Cys369Ter
ENST00000487664.5:c.1224C>A	ENSP00000417851.2:p.Cys408Ter
ENST00000488444.6:c.1167C>A	ENSP00000419007.3:p.Cys389Ter
ENST00000490355.6:c.1167C>A	ENSP00000418003.3:p.Cys389Ter
ENST00000490363.3:n.1043C>A
ENST00000491806.6:c.1167C>A	ENSP00000419086.3:p.Cys389Ter
ENST00000628528.2:c.1089C>A	ENSP00000486374.1:p.Cys363Ter
ENST00000630792.2:c.1065C>A	ENSP00000486486.1:p.Cys355Ter
ENST00000631073.2:c.1167C>A	ENSP00000486130.1:p.Cys389Ter
NM_001272003.1:c.1089C>A	NP_001258932.1:p.Cys363Ter
NM_020822.2:c.1224C>A	NP_065873.2:p.Cys408Ter
XM_011518877.1:c.1359C>A	XP_011517179.1:p.Cys453Ter
XM_011518878.1:c.1368C>A	XP_011517180.1:p.Cys456Ter
XM_011518879.1:c.1359C>A	XP_011517181.1:p.Cys453Ter
XM_011518880.1:c.1125C>A	XP_011517182.1:p.Cys375Ter
XM_011518881.1:c.714C>A	XP_011517183.1:p.Cys238Ter
XM_011518877.3:c.1359C>A	XP_011517179.1:p.Cys453Ter
XM_011518878.3:c.1368C>A	XP_011517180.1:p.Cys456Ter
XM_011518879.3:c.1359C>A	XP_011517181.1:p.Cys453Ter
XM_011518881.3:c.714C>A	XP_011517183.1:p.Cys238Ter
XM_017014931.1:c.1158C>A	XP_016870420.1:p.Cys386Ter
XM_017014932.1:c.981C>A	XP_016870421.1:p.Cys327Ter
XM_017014933.1:c.714C>A	XP_016870422.1:p.Cys238Ter
XM_024447617.1:c.714C>A	XP_024303385.1:p.Cys238Ter
XM_024447618.1:c.714C>A	XP_024303386.1:p.Cys238Ter
NM_020822.3:c.1224C>A MANE Select	NP_065873.2:p.Cys408Ter
NM_001272003.2:c.1089C>A	NP_001258932.1:p.Cys363Ter