Canonical Allele Identifier: CA375512200

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775338-C-T
• COSMIC: COSM312226 ; COSM5661301
• MyVariant Identifiers: chr9:g.138667184C>T (hg19) ; chr9:g.135775338C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775338C>T , CM000671.2:g.135775338C>T	GRCh38
NC_000009.11:g.138667184C>T , CM000671.1:g.138667184C>T	GRCh37
NC_000009.10:g.137807005C>T	NCBI36
NG_033070.1:g.78154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2272C>T MANE Select	ENSP00000360822.2:p.Pro758Ser
ENST00000674572.1:c.2113C>T	ENSP00000501742.1:p.Pro705Ser
ENST00000675090.1:c.2020C>T	ENSP00000501833.1:p.Pro674Ser
ENST00000675399.1:c.2020C>T	ENSP00000501932.1:p.Pro674Ser
ENST00000676421.1:c.2029C>T	ENSP00000502322.1:p.Pro677Ser
ENST00000263604.5:c.2173C>T	ENSP00000263604.4:p.Pro725Ser
ENST00000371757.6:c.2272C>T	ENSP00000360822.2:p.Pro758Ser
ENST00000460750.5:c.*1882C>T	ENSP00000418777.1:n.*1882C>T
ENST00000486577.6:c.2155C>T	ENSP00000417578.3:p.Pro719Ser
ENST00000487664.5:c.2272C>T	ENSP00000417851.2:p.Pro758Ser
ENST00000488444.6:c.2215C>T	ENSP00000419007.3:p.Pro739Ser
ENST00000490355.6:c.2209C>T	ENSP00000418003.3:p.Pro737Ser
ENST00000490363.3:n.2091C>T
ENST00000491806.6:c.2215C>T	ENSP00000419086.3:p.Pro739Ser
ENST00000628528.2:c.2137C>T	ENSP00000486374.1:p.Pro713Ser
ENST00000630792.2:c.2107C>T	ENSP00000486486.1:p.Pro703Ser
ENST00000631073.2:c.2215C>T	ENSP00000486130.1:p.Pro739Ser
ENST00000631193.1:c.121C>T	ENSP00000486830.1:p.Pro41Ser
NM_001272003.1:c.2137C>T	NP_001258932.1:p.Pro713Ser
NM_020822.2:c.2272C>T	NP_065873.2:p.Pro758Ser
XM_011518877.1:c.2407C>T	XP_011517179.1:p.Pro803Ser
XM_011518878.1:c.2416C>T	XP_011517180.1:p.Pro806Ser
XM_011518879.1:c.2407C>T	XP_011517181.1:p.Pro803Ser
XM_011518880.1:c.2173C>T	XP_011517182.1:p.Pro725Ser
XM_011518881.1:c.1762C>T	XP_011517183.1:p.Pro588Ser
XM_011518877.3:c.2407C>T	XP_011517179.1:p.Pro803Ser
XM_011518878.3:c.2416C>T	XP_011517180.1:p.Pro806Ser
XM_011518879.3:c.2407C>T	XP_011517181.1:p.Pro803Ser
XM_011518881.3:c.1762C>T	XP_011517183.1:p.Pro588Ser
XM_017014931.1:c.2206C>T	XP_016870420.1:p.Pro736Ser
XM_017014932.1:c.2029C>T	XP_016870421.1:p.Pro677Ser
XM_017014933.1:c.1762C>T	XP_016870422.1:p.Pro588Ser
XM_024447617.1:c.1762C>T	XP_024303385.1:p.Pro588Ser
XM_024447618.1:c.1762C>T	XP_024303386.1:p.Pro588Ser
NM_020822.3:c.2272C>T MANE Select	NP_065873.2:p.Pro758Ser
NM_001272003.2:c.2137C>T	NP_001258932.1:p.Pro713Ser