Canonical Allele Identifier: CA375512163

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667173C>T (hg19) ; chr9:g.135775327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775327C>T , CM000671.2:g.135775327C>T	GRCh38
NC_000009.11:g.138667173C>T , CM000671.1:g.138667173C>T	GRCh37
NC_000009.10:g.137806994C>T	NCBI36
NG_033070.1:g.78143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2261C>T MANE Select	ENSP00000360822.2:p.Pro754Leu
ENST00000674572.1:c.2102C>T	ENSP00000501742.1:p.Pro701Leu
ENST00000675090.1:c.2009C>T	ENSP00000501833.1:p.Pro670Leu
ENST00000675399.1:c.2009C>T	ENSP00000501932.1:p.Pro670Leu
ENST00000676421.1:c.2018C>T	ENSP00000502322.1:p.Pro673Leu
ENST00000263604.5:c.2162C>T	ENSP00000263604.4:p.Pro721Leu
ENST00000371757.6:c.2261C>T	ENSP00000360822.2:p.Pro754Leu
ENST00000460750.5:c.*1871C>T	ENSP00000418777.1:n.*1871C>T
ENST00000486577.6:c.2144C>T	ENSP00000417578.3:p.Pro715Leu
ENST00000487664.5:c.2261C>T	ENSP00000417851.2:p.Pro754Leu
ENST00000488444.6:c.2204C>T	ENSP00000419007.3:p.Pro735Leu
ENST00000490355.6:c.2198C>T	ENSP00000418003.3:p.Pro733Leu
ENST00000490363.3:n.2080C>T
ENST00000491806.6:c.2204C>T	ENSP00000419086.3:p.Pro735Leu
ENST00000628528.2:c.2126C>T	ENSP00000486374.1:p.Pro709Leu
ENST00000630792.2:c.2096C>T	ENSP00000486486.1:p.Pro699Leu
ENST00000631073.2:c.2204C>T	ENSP00000486130.1:p.Pro735Leu
ENST00000631193.1:c.110C>T	ENSP00000486830.1:p.Pro37Leu
NM_001272003.1:c.2126C>T	NP_001258932.1:p.Pro709Leu
NM_020822.2:c.2261C>T	NP_065873.2:p.Pro754Leu
XM_011518877.1:c.2396C>T	XP_011517179.1:p.Pro799Leu
XM_011518878.1:c.2405C>T	XP_011517180.1:p.Pro802Leu
XM_011518879.1:c.2396C>T	XP_011517181.1:p.Pro799Leu
XM_011518880.1:c.2162C>T	XP_011517182.1:p.Pro721Leu
XM_011518881.1:c.1751C>T	XP_011517183.1:p.Pro584Leu
XM_011518877.3:c.2396C>T	XP_011517179.1:p.Pro799Leu
XM_011518878.3:c.2405C>T	XP_011517180.1:p.Pro802Leu
XM_011518879.3:c.2396C>T	XP_011517181.1:p.Pro799Leu
XM_011518881.3:c.1751C>T	XP_011517183.1:p.Pro584Leu
XM_017014931.1:c.2195C>T	XP_016870420.1:p.Pro732Leu
XM_017014932.1:c.2018C>T	XP_016870421.1:p.Pro673Leu
XM_017014933.1:c.1751C>T	XP_016870422.1:p.Pro584Leu
XM_024447617.1:c.1751C>T	XP_024303385.1:p.Pro584Leu
XM_024447618.1:c.1751C>T	XP_024303386.1:p.Pro584Leu
NM_020822.3:c.2261C>T MANE Select	NP_065873.2:p.Pro754Leu
NM_001272003.2:c.2126C>T	NP_001258932.1:p.Pro709Leu