Canonical Allele Identifier: CA375512375

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775380-G-T
• MyVariant Identifiers: chr9:g.138667226G>T (hg19) ; chr9:g.135775380G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775380G>T , CM000671.2:g.135775380G>T	GRCh38
NC_000009.11:g.138667226G>T , CM000671.1:g.138667226G>T	GRCh37
NC_000009.10:g.137807047G>T	NCBI36
NG_033070.1:g.78196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2314G>T MANE Select	ENSP00000360822.2:p.Val772Leu
ENST00000674572.1:c.2155G>T	ENSP00000501742.1:p.Val719Leu
ENST00000675090.1:c.2062G>T	ENSP00000501833.1:p.Val688Leu
ENST00000675399.1:c.2062G>T	ENSP00000501932.1:p.Val688Leu
ENST00000676421.1:c.2071G>T	ENSP00000502322.1:p.Val691Leu
ENST00000263604.5:c.2215G>T	ENSP00000263604.4:p.Val739Leu
ENST00000371757.6:c.2314G>T	ENSP00000360822.2:p.Val772Leu
ENST00000460750.5:c.*1924G>T	ENSP00000418777.1:n.*1924G>T
ENST00000486577.6:c.2197G>T	ENSP00000417578.3:p.Val733Leu
ENST00000487664.5:c.2314G>T	ENSP00000417851.2:p.Val772Leu
ENST00000488444.6:c.2257G>T	ENSP00000419007.3:p.Val753Leu
ENST00000490355.6:c.2251G>T	ENSP00000418003.3:p.Val751Leu
ENST00000490363.3:n.2133G>T
ENST00000491806.6:c.2257G>T	ENSP00000419086.3:p.Val753Leu
ENST00000628528.2:c.2179G>T	ENSP00000486374.1:p.Val727Leu
ENST00000630792.2:c.2149G>T	ENSP00000486486.1:p.Val717Leu
ENST00000631073.2:c.2257G>T	ENSP00000486130.1:p.Val753Leu
ENST00000631193.1:c.163G>T	ENSP00000486830.1:p.Val55Leu
NM_001272003.1:c.2179G>T	NP_001258932.1:p.Val727Leu
NM_020822.2:c.2314G>T	NP_065873.2:p.Val772Leu
XM_011518877.1:c.2449G>T	XP_011517179.1:p.Val817Leu
XM_011518878.1:c.2458G>T	XP_011517180.1:p.Val820Leu
XM_011518879.1:c.2449G>T	XP_011517181.1:p.Val817Leu
XM_011518880.1:c.2215G>T	XP_011517182.1:p.Val739Leu
XM_011518881.1:c.1804G>T	XP_011517183.1:p.Val602Leu
XM_011518877.3:c.2449G>T	XP_011517179.1:p.Val817Leu
XM_011518878.3:c.2458G>T	XP_011517180.1:p.Val820Leu
XM_011518879.3:c.2449G>T	XP_011517181.1:p.Val817Leu
XM_011518881.3:c.1804G>T	XP_011517183.1:p.Val602Leu
XM_017014931.1:c.2248G>T	XP_016870420.1:p.Val750Leu
XM_017014932.1:c.2071G>T	XP_016870421.1:p.Val691Leu
XM_017014933.1:c.1804G>T	XP_016870422.1:p.Val602Leu
XM_024447617.1:c.1804G>T	XP_024303385.1:p.Val602Leu
XM_024447618.1:c.1804G>T	XP_024303386.1:p.Val602Leu
NM_020822.3:c.2314G>T MANE Select	NP_065873.2:p.Val772Leu
NM_001272003.2:c.2179G>T	NP_001258932.1:p.Val727Leu