Canonical Allele Identifier: CA201472901

Gene: KCNT1

Linked Data

• dbSNP Id: rs894604084
• gnomAD v4: 9-135770314-C-T
• MyVariant Identifiers: chr9:g.138662160C>T (hg19) ; chr9:g.135770314C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770314C>T , CM000671.2:g.135770314C>T	GRCh38
NC_000009.11:g.138662160C>T , CM000671.1:g.138662160C>T	GRCh37
NC_000009.10:g.137801981C>T	NCBI36
NG_033070.1:g.73130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1636C>T MANE Select	ENSP00000360822.2:p.Pro546Ser
ENST00000674572.1:c.1477C>T	ENSP00000501742.1:p.Pro493Ser
ENST00000675090.1:c.1384C>T	ENSP00000501833.1:p.Pro462Ser
ENST00000675399.1:c.1384C>T	ENSP00000501932.1:p.Pro462Ser
ENST00000676421.1:c.1393C>T	ENSP00000502322.1:p.Pro465Ser
ENST00000263604.5:c.1537C>T	ENSP00000263604.4:p.Pro513Ser
ENST00000371757.6:c.1636C>T	ENSP00000360822.2:p.Pro546Ser
ENST00000460750.5:c.*1246C>T	ENSP00000418777.1:n.*1246C>T
ENST00000486577.6:c.1519C>T	ENSP00000417578.3:p.Pro507Ser
ENST00000487664.5:c.1636C>T	ENSP00000417851.2:p.Pro546Ser
ENST00000488444.6:c.1579C>T	ENSP00000419007.3:p.Pro527Ser
ENST00000490355.6:c.1579C>T	ENSP00000418003.3:p.Pro527Ser
ENST00000490363.3:n.1455C>T
ENST00000491806.6:c.1579C>T	ENSP00000419086.3:p.Pro527Ser
ENST00000628528.2:c.1501C>T	ENSP00000486374.1:p.Pro501Ser
ENST00000630792.2:c.1477C>T	ENSP00000486486.1:p.Pro493Ser
ENST00000631073.2:c.1579C>T	ENSP00000486130.1:p.Pro527Ser
NM_001272003.1:c.1501C>T	NP_001258932.1:p.Pro501Ser
NM_020822.2:c.1636C>T	NP_065873.2:p.Pro546Ser
XM_011518877.1:c.1771C>T	XP_011517179.1:p.Pro591Ser
XM_011518878.1:c.1780C>T	XP_011517180.1:p.Pro594Ser
XM_011518879.1:c.1771C>T	XP_011517181.1:p.Pro591Ser
XM_011518880.1:c.1537C>T	XP_011517182.1:p.Pro513Ser
XM_011518881.1:c.1126C>T	XP_011517183.1:p.Pro376Ser
XM_011518877.3:c.1771C>T	XP_011517179.1:p.Pro591Ser
XM_011518878.3:c.1780C>T	XP_011517180.1:p.Pro594Ser
XM_011518879.3:c.1771C>T	XP_011517181.1:p.Pro591Ser
XM_011518881.3:c.1126C>T	XP_011517183.1:p.Pro376Ser
XM_017014931.1:c.1570C>T	XP_016870420.1:p.Pro524Ser
XM_017014932.1:c.1393C>T	XP_016870421.1:p.Pro465Ser
XM_017014933.1:c.1126C>T	XP_016870422.1:p.Pro376Ser
XM_024447617.1:c.1126C>T	XP_024303385.1:p.Pro376Ser
XM_024447618.1:c.1126C>T	XP_024303386.1:p.Pro376Ser
NM_020822.3:c.1636C>T MANE Select	NP_065873.2:p.Pro546Ser
NM_001272003.2:c.1501C>T	NP_001258932.1:p.Pro501Ser