Canonical Allele Identifier: CA375512554

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135775407-C-A
• MyVariant Identifiers: chr9:g.138667253C>A (hg19) ; chr9:g.135775407C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775407C>A , CM000671.2:g.135775407C>A	GRCh38
NC_000009.11:g.138667253C>A , CM000671.1:g.138667253C>A	GRCh37
NC_000009.10:g.137807074C>A	NCBI36
NG_033070.1:g.78223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.2341C>A MANE Select	ENSP00000360822.2:p.Leu781Met
ENST00000674572.1:c.2182C>A	ENSP00000501742.1:p.Leu728Met
ENST00000675090.1:c.2089C>A	ENSP00000501833.1:p.Leu697Met
ENST00000675399.1:c.2089C>A	ENSP00000501932.1:p.Leu697Met
ENST00000676421.1:c.2098C>A	ENSP00000502322.1:p.Leu700Met
ENST00000263604.5:c.2242C>A	ENSP00000263604.4:p.Leu748Met
ENST00000371757.6:c.2341C>A	ENSP00000360822.2:p.Leu781Met
ENST00000460750.5:c.*1951C>A	ENSP00000418777.1:n.*1951C>A
ENST00000486577.6:c.2224C>A	ENSP00000417578.3:p.Leu742Met
ENST00000487664.5:c.2341C>A	ENSP00000417851.2:p.Leu781Met
ENST00000488444.6:c.2284C>A	ENSP00000419007.3:p.Leu762Met
ENST00000490355.6:c.2278C>A	ENSP00000418003.3:p.Leu760Met
ENST00000490363.3:n.2160C>A
ENST00000491806.6:c.2284C>A	ENSP00000419086.3:p.Leu762Met
ENST00000628528.2:c.2206C>A	ENSP00000486374.1:p.Leu736Met
ENST00000630792.2:c.2176C>A	ENSP00000486486.1:p.Leu726Met
ENST00000631073.2:c.2284C>A	ENSP00000486130.1:p.Leu762Met
ENST00000631193.1:c.190C>A	ENSP00000486830.1:p.Leu64Met
NM_001272003.1:c.2206C>A	NP_001258932.1:p.Leu736Met
NM_020822.2:c.2341C>A	NP_065873.2:p.Leu781Met
XM_011518877.1:c.2476C>A	XP_011517179.1:p.Leu826Met
XM_011518878.1:c.2485C>A	XP_011517180.1:p.Leu829Met
XM_011518879.1:c.2476C>A	XP_011517181.1:p.Leu826Met
XM_011518880.1:c.2242C>A	XP_011517182.1:p.Leu748Met
XM_011518881.1:c.1831C>A	XP_011517183.1:p.Leu611Met
XM_011518877.3:c.2476C>A	XP_011517179.1:p.Leu826Met
XM_011518878.3:c.2485C>A	XP_011517180.1:p.Leu829Met
XM_011518879.3:c.2476C>A	XP_011517181.1:p.Leu826Met
XM_011518881.3:c.1831C>A	XP_011517183.1:p.Leu611Met
XM_017014931.1:c.2275C>A	XP_016870420.1:p.Leu759Met
XM_017014932.1:c.2098C>A	XP_016870421.1:p.Leu700Met
XM_017014933.1:c.1831C>A	XP_016870422.1:p.Leu611Met
XM_024447617.1:c.1831C>A	XP_024303385.1:p.Leu611Met
XM_024447618.1:c.1831C>A	XP_024303386.1:p.Leu611Met
NM_020822.3:c.2341C>A MANE Select	NP_065873.2:p.Leu781Met
NM_001272003.2:c.2206C>A	NP_001258932.1:p.Leu736Met