Canonical Allele Identifier: CA375494804

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138641996C>G (hg19) ; chr9:g.135750150C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750150C>G , CM000671.2:g.135750150C>G	GRCh38
NC_000009.11:g.138641996C>G , CM000671.1:g.138641996C>G	GRCh37
NC_000009.10:g.137781817C>G	NCBI36
NG_033070.1:g.52966C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.307C>G MANE Select	ENSP00000360822.2:p.Leu103Val
ENST00000637018.1:n.112C>G
ENST00000638123.1:n.42C>G
ENST00000674572.1:c.148C>G	ENSP00000501742.1:p.Leu50Val
ENST00000675090.1:c.55C>G	ENSP00000501833.1:p.Leu19Val
ENST00000675399.1:c.55C>G	ENSP00000501932.1:p.Leu19Val
ENST00000676421.1:c.55C>G	ENSP00000502322.1:p.Leu19Val
ENST00000263604.5:c.208C>G	ENSP00000263604.4:p.Leu70Val
ENST00000371757.6:c.307C>G	ENSP00000360822.2:p.Leu103Val
ENST00000460750.5:c.307C>G	ENSP00000418777.1:p.Leu103Val
ENST00000473941.5:c.148C>G	ENSP00000420764.1:p.Leu50Val
ENST00000486577.6:c.190C>G	ENSP00000417578.3:p.Leu64Val
ENST00000487664.5:c.307C>G	ENSP00000417851.2:p.Leu103Val
ENST00000488444.6:c.250C>G	ENSP00000419007.3:p.Leu84Val
ENST00000490355.6:c.250C>G	ENSP00000418003.3:p.Leu84Val
ENST00000491806.6:c.250C>G	ENSP00000419086.3:p.Leu84Val
ENST00000628528.2:c.163C>G	ENSP00000486374.1:p.Leu55Val
ENST00000630792.2:c.148C>G	ENSP00000486486.1:p.Leu50Val
ENST00000631073.2:c.250C>G	ENSP00000486130.1:p.Leu84Val
NM_001272003.1:c.163C>G	NP_001258932.1:p.Leu55Val
NM_020822.2:c.307C>G	NP_065873.2:p.Leu103Val
XM_011518877.1:c.442C>G	XP_011517179.1:p.Leu148Val
XM_011518878.1:c.442C>G	XP_011517180.1:p.Leu148Val
XM_011518879.1:c.442C>G	XP_011517181.1:p.Leu148Val
XM_011518880.1:c.208C>G	XP_011517182.1:p.Leu70Val
XM_011518877.3:c.442C>G	XP_011517179.1:p.Leu148Val
XM_011518878.3:c.442C>G	XP_011517180.1:p.Leu148Val
XM_011518879.3:c.442C>G	XP_011517181.1:p.Leu148Val
XM_017014931.1:c.332C>G	XP_016870420.1:p.Ala111Gly
XM_017014932.1:c.55C>G	XP_016870421.1:p.Leu19Val
XM_017014933.1:c.-113C>G	XP_016870422.1:n.-113C>G
XM_024447617.1:c.-213C>G	XP_024303385.1:n.-213C>G
XM_024447618.1:c.-213C>G	XP_024303386.1:n.-213C>G
NM_020822.3:c.307C>G MANE Select	NP_065873.2:p.Leu103Val
NM_001272003.2:c.163C>G	NP_001258932.1:p.Leu55Val