Canonical Allele Identifier: CA375512288

Gene: KCNT1

Linked Data

• dbSNP Id: rs1366096381
• gnomAD v2: 9-138667209-T-C
• gnomAD v4: 9-135775363-T-C
• MyVariant Identifiers: chr9:g.138667209T>C (hg19) ; chr9:g.135775363T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775363T>C , CM000671.2:g.135775363T>C	GRCh38
NC_000009.11:g.138667209T>C , CM000671.1:g.138667209T>C	GRCh37
NC_000009.10:g.137807030T>C	NCBI36
NG_033070.1:g.78179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2297T>C MANE Select	ENSP00000360822.2:p.Leu766Pro
ENST00000674572.1:c.2138T>C	ENSP00000501742.1:p.Leu713Pro
ENST00000675090.1:c.2045T>C	ENSP00000501833.1:p.Leu682Pro
ENST00000675399.1:c.2045T>C	ENSP00000501932.1:p.Leu682Pro
ENST00000676421.1:c.2054T>C	ENSP00000502322.1:p.Leu685Pro
ENST00000263604.5:c.2198T>C	ENSP00000263604.4:p.Leu733Pro
ENST00000371757.6:c.2297T>C	ENSP00000360822.2:p.Leu766Pro
ENST00000460750.5:c.*1907T>C	ENSP00000418777.1:n.*1907T>C
ENST00000486577.6:c.2180T>C	ENSP00000417578.3:p.Leu727Pro
ENST00000487664.5:c.2297T>C	ENSP00000417851.2:p.Leu766Pro
ENST00000488444.6:c.2240T>C	ENSP00000419007.3:p.Leu747Pro
ENST00000490355.6:c.2234T>C	ENSP00000418003.3:p.Leu745Pro
ENST00000490363.3:n.2116T>C
ENST00000491806.6:c.2240T>C	ENSP00000419086.3:p.Leu747Pro
ENST00000628528.2:c.2162T>C	ENSP00000486374.1:p.Leu721Pro
ENST00000630792.2:c.2132T>C	ENSP00000486486.1:p.Leu711Pro
ENST00000631073.2:c.2240T>C	ENSP00000486130.1:p.Leu747Pro
ENST00000631193.1:c.146T>C	ENSP00000486830.1:p.Leu49Pro
NM_001272003.1:c.2162T>C	NP_001258932.1:p.Leu721Pro
NM_020822.2:c.2297T>C	NP_065873.2:p.Leu766Pro
XM_011518877.1:c.2432T>C	XP_011517179.1:p.Leu811Pro
XM_011518878.1:c.2441T>C	XP_011517180.1:p.Leu814Pro
XM_011518879.1:c.2432T>C	XP_011517181.1:p.Leu811Pro
XM_011518880.1:c.2198T>C	XP_011517182.1:p.Leu733Pro
XM_011518881.1:c.1787T>C	XP_011517183.1:p.Leu596Pro
XM_011518877.3:c.2432T>C	XP_011517179.1:p.Leu811Pro
XM_011518878.3:c.2441T>C	XP_011517180.1:p.Leu814Pro
XM_011518879.3:c.2432T>C	XP_011517181.1:p.Leu811Pro
XM_011518881.3:c.1787T>C	XP_011517183.1:p.Leu596Pro
XM_017014931.1:c.2231T>C	XP_016870420.1:p.Leu744Pro
XM_017014932.1:c.2054T>C	XP_016870421.1:p.Leu685Pro
XM_017014933.1:c.1787T>C	XP_016870422.1:p.Leu596Pro
XM_024447617.1:c.1787T>C	XP_024303385.1:p.Leu596Pro
XM_024447618.1:c.1787T>C	XP_024303386.1:p.Leu596Pro
NM_020822.3:c.2297T>C MANE Select	NP_065873.2:p.Leu766Pro
NM_001272003.2:c.2162T>C	NP_001258932.1:p.Leu721Pro