Canonical Allele Identifier: CA375506733

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662256A>C (hg19) ; chr9:g.135770410A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770410A>C , CM000671.2:g.135770410A>C	GRCh38
NC_000009.11:g.138662256A>C , CM000671.1:g.138662256A>C	GRCh37
NC_000009.10:g.137802077A>C	NCBI36
NG_033070.1:g.73226A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1732A>C MANE Select	ENSP00000360822.2:p.Lys578Gln
ENST00000674572.1:c.1573A>C	ENSP00000501742.1:p.Lys525Gln
ENST00000675090.1:c.1480A>C	ENSP00000501833.1:p.Lys494Gln
ENST00000675399.1:c.1480A>C	ENSP00000501932.1:p.Lys494Gln
ENST00000676421.1:c.1489A>C	ENSP00000502322.1:p.Lys497Gln
ENST00000263604.5:c.1633A>C	ENSP00000263604.4:p.Lys545Gln
ENST00000371757.6:c.1732A>C	ENSP00000360822.2:p.Lys578Gln
ENST00000460750.5:c.*1342A>C	ENSP00000418777.1:n.*1342A>C
ENST00000486577.6:c.1615A>C	ENSP00000417578.3:p.Lys539Gln
ENST00000487664.5:c.1732A>C	ENSP00000417851.2:p.Lys578Gln
ENST00000488444.6:c.1675A>C	ENSP00000419007.3:p.Lys559Gln
ENST00000490355.6:c.1675A>C	ENSP00000418003.3:p.Lys559Gln
ENST00000490363.3:n.1551A>C
ENST00000491806.6:c.1675A>C	ENSP00000419086.3:p.Lys559Gln
ENST00000628528.2:c.1597A>C	ENSP00000486374.1:p.Lys533Gln
ENST00000630792.2:c.1573A>C	ENSP00000486486.1:p.Lys525Gln
ENST00000631073.2:c.1675A>C	ENSP00000486130.1:p.Lys559Gln
NM_001272003.1:c.1597A>C	NP_001258932.1:p.Lys533Gln
NM_020822.2:c.1732A>C	NP_065873.2:p.Lys578Gln
XM_011518877.1:c.1867A>C	XP_011517179.1:p.Lys623Gln
XM_011518878.1:c.1876A>C	XP_011517180.1:p.Lys626Gln
XM_011518879.1:c.1867A>C	XP_011517181.1:p.Lys623Gln
XM_011518880.1:c.1633A>C	XP_011517182.1:p.Lys545Gln
XM_011518881.1:c.1222A>C	XP_011517183.1:p.Lys408Gln
XM_011518877.3:c.1867A>C	XP_011517179.1:p.Lys623Gln
XM_011518878.3:c.1876A>C	XP_011517180.1:p.Lys626Gln
XM_011518879.3:c.1867A>C	XP_011517181.1:p.Lys623Gln
XM_011518881.3:c.1222A>C	XP_011517183.1:p.Lys408Gln
XM_017014931.1:c.1666A>C	XP_016870420.1:p.Lys556Gln
XM_017014932.1:c.1489A>C	XP_016870421.1:p.Lys497Gln
XM_017014933.1:c.1222A>C	XP_016870422.1:p.Lys408Gln
XM_024447617.1:c.1222A>C	XP_024303385.1:p.Lys408Gln
XM_024447618.1:c.1222A>C	XP_024303386.1:p.Lys408Gln
NM_020822.3:c.1732A>C MANE Select	NP_065873.2:p.Lys578Gln
NM_001272003.2:c.1597A>C	NP_001258932.1:p.Lys533Gln