Canonical Allele Identifier: CA2692518791

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770330-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770331dup , CM000671.2:g.135770331dup	GRCh38
NC_000009.11:g.138662177dup , CM000671.1:g.138662177dup	GRCh37
NC_000009.10:g.137801998dup	NCBI36
NG_033070.1:g.73147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1653dup MANE Select	ENSP00000360822.2:p.Met552HisfsTer17
ENST00000674572.1:c.1494dup	ENSP00000501742.1:p.Met499HisfsTer17
ENST00000675090.1:c.1401dup	ENSP00000501833.1:p.Met468HisfsTer17
ENST00000675399.1:c.1401dup	ENSP00000501932.1:p.Met468HisfsTer17
ENST00000676421.1:c.1410dup	ENSP00000502322.1:p.Met471HisfsTer17
ENST00000263604.5:c.1554dup	ENSP00000263604.4:p.Met519HisfsTer17
ENST00000371757.6:c.1653dup	ENSP00000360822.2:p.Met552HisfsTer17
ENST00000460750.5:c.*1263dup	ENSP00000418777.1:n.*1263dup
ENST00000486577.6:c.1536dup	ENSP00000417578.3:p.Met513HisfsTer17
ENST00000487664.5:c.1653dup	ENSP00000417851.2:p.Met552HisfsTer17
ENST00000488444.6:c.1596dup	ENSP00000419007.3:p.Met533HisfsTer17
ENST00000490355.6:c.1596dup	ENSP00000418003.3:p.Met533HisfsTer17
ENST00000490363.3:n.1472dup
ENST00000491806.6:c.1596dup	ENSP00000419086.3:p.Met533HisfsTer17
ENST00000628528.2:c.1518dup	ENSP00000486374.1:p.Met507HisfsTer17
ENST00000630792.2:c.1494dup	ENSP00000486486.1:p.Met499HisfsTer17
ENST00000631073.2:c.1596dup	ENSP00000486130.1:p.Met533HisfsTer17
NM_001272003.1:c.1518dup	NP_001258932.1:p.Met507HisfsTer17
NM_020822.2:c.1653dup	NP_065873.2:p.Met552HisfsTer17
XM_011518877.1:c.1788dup	XP_011517179.1:p.Met597HisfsTer17
XM_011518878.1:c.1797dup	XP_011517180.1:p.Met600HisfsTer17
XM_011518879.1:c.1788dup	XP_011517181.1:p.Met597HisfsTer17
XM_011518880.1:c.1554dup	XP_011517182.1:p.Met519HisfsTer17
XM_011518881.1:c.1143dup	XP_011517183.1:p.Met382HisfsTer17
XM_011518877.3:c.1788dup	XP_011517179.1:p.Met597HisfsTer17
XM_011518878.3:c.1797dup	XP_011517180.1:p.Met600HisfsTer17
XM_011518879.3:c.1788dup	XP_011517181.1:p.Met597HisfsTer17
XM_011518881.3:c.1143dup	XP_011517183.1:p.Met382HisfsTer17
XM_017014931.1:c.1587dup	XP_016870420.1:p.Met530HisfsTer17
XM_017014932.1:c.1410dup	XP_016870421.1:p.Met471HisfsTer17
XM_017014933.1:c.1143dup	XP_016870422.1:p.Met382HisfsTer17
XM_024447617.1:c.1143dup	XP_024303385.1:p.Met382HisfsTer17
XM_024447618.1:c.1143dup	XP_024303386.1:p.Met382HisfsTer17
NM_020822.3:c.1653dup MANE Select	NP_065873.2:p.Met552HisfsTer17
NM_001272003.2:c.1518dup	NP_001258932.1:p.Met507HisfsTer17