Canonical Allele Identifier: CA375506005

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770030-C-A
• MyVariant Identifiers: chr9:g.138661876C>A (hg19) ; chr9:g.135770030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770030C>A , CM000671.2:g.135770030C>A	GRCh38
NC_000009.11:g.138661876C>A , CM000671.1:g.138661876C>A	GRCh37
NC_000009.10:g.137801697C>A	NCBI36
NG_033070.1:g.72846C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1594C>A MANE Select	ENSP00000360822.2:p.Leu532Met
ENST00000674572.1:c.1435C>A	ENSP00000501742.1:p.Leu479Met
ENST00000675090.1:c.1342C>A	ENSP00000501833.1:p.Leu448Met
ENST00000675399.1:c.1342C>A	ENSP00000501932.1:p.Leu448Met
ENST00000676421.1:c.1351C>A	ENSP00000502322.1:p.Leu451Met
ENST00000263604.5:c.1495C>A	ENSP00000263604.4:p.Leu499Met
ENST00000371757.6:c.1594C>A	ENSP00000360822.2:p.Leu532Met
ENST00000460750.5:c.*1204C>A	ENSP00000418777.1:n.*1204C>A
ENST00000486577.6:c.1477C>A	ENSP00000417578.3:p.Leu493Met
ENST00000487664.5:c.1594C>A	ENSP00000417851.2:p.Leu532Met
ENST00000488444.6:c.1537C>A	ENSP00000419007.3:p.Leu513Met
ENST00000490355.6:c.1537C>A	ENSP00000418003.3:p.Leu513Met
ENST00000490363.3:n.1413C>A
ENST00000491806.6:c.1537C>A	ENSP00000419086.3:p.Leu513Met
ENST00000628528.2:c.1459C>A	ENSP00000486374.1:p.Leu487Met
ENST00000630792.2:c.1435C>A	ENSP00000486486.1:p.Leu479Met
ENST00000631073.2:c.1537C>A	ENSP00000486130.1:p.Leu513Met
NM_001272003.1:c.1459C>A	NP_001258932.1:p.Leu487Met
NM_020822.2:c.1594C>A	NP_065873.2:p.Leu532Met
XM_011518877.1:c.1729C>A	XP_011517179.1:p.Leu577Met
XM_011518878.1:c.1738C>A	XP_011517180.1:p.Leu580Met
XM_011518879.1:c.1729C>A	XP_011517181.1:p.Leu577Met
XM_011518880.1:c.1495C>A	XP_011517182.1:p.Leu499Met
XM_011518881.1:c.1084C>A	XP_011517183.1:p.Leu362Met
XM_011518877.3:c.1729C>A	XP_011517179.1:p.Leu577Met
XM_011518878.3:c.1738C>A	XP_011517180.1:p.Leu580Met
XM_011518879.3:c.1729C>A	XP_011517181.1:p.Leu577Met
XM_011518881.3:c.1084C>A	XP_011517183.1:p.Leu362Met
XM_017014931.1:c.1528C>A	XP_016870420.1:p.Leu510Met
XM_017014932.1:c.1351C>A	XP_016870421.1:p.Leu451Met
XM_017014933.1:c.1084C>A	XP_016870422.1:p.Leu362Met
XM_024447617.1:c.1084C>A	XP_024303385.1:p.Leu362Met
XM_024447618.1:c.1084C>A	XP_024303386.1:p.Leu362Met
NM_020822.3:c.1594C>A MANE Select	NP_065873.2:p.Leu532Met
NM_001272003.2:c.1459C>A	NP_001258932.1:p.Leu487Met