Canonical Allele Identifier: CA467698382

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2419221
• ClinVar RCV Id: RCV003112465
• dbSNP Id: rs1423483871
• gnomAD v3: 9-135769960-TGAG-T
• gnomAD v4: 9-135769960-TGAG-T
• MyVariant Identifiers: chr9:g.138661807_138661809del (hg19) ; chr9:g.135769961_135769963del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769967_135769969del , CM000671.2:g.135769967_135769969del	GRCh38
NC_000009.11:g.138661813_138661815del , CM000671.1:g.138661813_138661815del	GRCh37
NC_000009.10:g.137801634_137801636del	NCBI36
NG_033070.1:g.72783_72785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1531_1533del MANE Select	ENSP00000360822.2:p.Glu511del
ENST00000674572.1:c.1372_1374del	ENSP00000501742.1:p.Glu458del
ENST00000675090.1:c.1279_1281del	ENSP00000501833.1:p.Glu427del
ENST00000675399.1:c.1279_1281del	ENSP00000501932.1:p.Glu427del
ENST00000676421.1:c.1288_1290del	ENSP00000502322.1:p.Glu430del
ENST00000263604.5:c.1432_1434del	ENSP00000263604.4:p.Glu478del
ENST00000371757.6:c.1531_1533del	ENSP00000360822.2:p.Glu511del
ENST00000460750.5:c.*1141_*1143del	ENSP00000418777.1:n.*1141_*1143del
ENST00000486577.6:c.1414_1416del	ENSP00000417578.3:p.Glu472del
ENST00000487664.5:c.1531_1533del	ENSP00000417851.2:p.Glu511del
ENST00000488444.6:c.1474_1476del	ENSP00000419007.3:p.Glu492del
ENST00000490355.6:c.1474_1476del	ENSP00000418003.3:p.Glu492del
ENST00000490363.3:n.1350_1352del
ENST00000491806.6:c.1474_1476del	ENSP00000419086.3:p.Glu492del
ENST00000628528.2:c.1396_1398del	ENSP00000486374.1:p.Glu466del
ENST00000630792.2:c.1372_1374del	ENSP00000486486.1:p.Glu458del
ENST00000631073.2:c.1474_1476del	ENSP00000486130.1:p.Glu492del
NM_001272003.1:c.1396_1398del	NP_001258932.1:p.Glu466del
NM_020822.2:c.1531_1533del	NP_065873.2:p.Glu511del
XM_011518877.1:c.1666_1668del	XP_011517179.1:p.Glu556del
XM_011518878.1:c.1675_1677del	XP_011517180.1:p.Glu559del
XM_011518879.1:c.1666_1668del	XP_011517181.1:p.Glu556del
XM_011518880.1:c.1432_1434del	XP_011517182.1:p.Glu478del
XM_011518881.1:c.1021_1023del	XP_011517183.1:p.Glu341del
XM_011518877.3:c.1666_1668del	XP_011517179.1:p.Glu556del
XM_011518878.3:c.1675_1677del	XP_011517180.1:p.Glu559del
XM_011518879.3:c.1666_1668del	XP_011517181.1:p.Glu556del
XM_011518881.3:c.1021_1023del	XP_011517183.1:p.Glu341del
XM_017014931.1:c.1465_1467del	XP_016870420.1:p.Glu489del
XM_017014932.1:c.1288_1290del	XP_016870421.1:p.Glu430del
XM_017014933.1:c.1021_1023del	XP_016870422.1:p.Glu341del
XM_024447617.1:c.1021_1023del	XP_024303385.1:p.Glu341del
XM_024447618.1:c.1021_1023del	XP_024303386.1:p.Glu341del
NM_020822.3:c.1531_1533del MANE Select	NP_065873.2:p.Glu511del
NM_001272003.2:c.1396_1398del	NP_001258932.1:p.Glu466del