Canonical Allele Identifier: CA375500996

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135765628-A-C
• MyVariant Identifiers: chr9:g.138657474A>C (hg19) ; chr9:g.135765628A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765628A>C , CM000671.2:g.135765628A>C	GRCh38
NC_000009.11:g.138657474A>C , CM000671.1:g.138657474A>C	GRCh37
NC_000009.10:g.137797295A>C	NCBI36
NG_033070.1:g.68444A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1205A>C MANE Select	ENSP00000360822.2:p.Tyr402Ser
ENST00000674572.1:c.1046A>C	ENSP00000501742.1:p.Tyr349Ser
ENST00000675090.1:c.953A>C	ENSP00000501833.1:p.Tyr318Ser
ENST00000675399.1:c.953A>C	ENSP00000501932.1:p.Tyr318Ser
ENST00000676421.1:c.962A>C	ENSP00000502322.1:p.Tyr321Ser
ENST00000263604.5:c.1106A>C	ENSP00000263604.4:p.Tyr369Ser
ENST00000371757.6:c.1205A>C	ENSP00000360822.2:p.Tyr402Ser
ENST00000460750.5:c.*815A>C	ENSP00000418777.1:n.*815A>C
ENST00000486577.6:c.1088A>C	ENSP00000417578.3:p.Tyr363Ser
ENST00000487664.5:c.1205A>C	ENSP00000417851.2:p.Tyr402Ser
ENST00000488444.6:c.1148A>C	ENSP00000419007.3:p.Tyr383Ser
ENST00000490355.6:c.1148A>C	ENSP00000418003.3:p.Tyr383Ser
ENST00000490363.3:n.1024A>C
ENST00000491806.6:c.1148A>C	ENSP00000419086.3:p.Tyr383Ser
ENST00000628528.2:c.1070A>C	ENSP00000486374.1:p.Tyr357Ser
ENST00000630792.2:c.1046A>C	ENSP00000486486.1:p.Tyr349Ser
ENST00000631073.2:c.1148A>C	ENSP00000486130.1:p.Tyr383Ser
NM_001272003.1:c.1070A>C	NP_001258932.1:p.Tyr357Ser
NM_020822.2:c.1205A>C	NP_065873.2:p.Tyr402Ser
XM_011518877.1:c.1340A>C	XP_011517179.1:p.Tyr447Ser
XM_011518878.1:c.1349A>C	XP_011517180.1:p.Tyr450Ser
XM_011518879.1:c.1340A>C	XP_011517181.1:p.Tyr447Ser
XM_011518880.1:c.1106A>C	XP_011517182.1:p.Tyr369Ser
XM_011518881.1:c.695A>C	XP_011517183.1:p.Tyr232Ser
XM_011518877.3:c.1340A>C	XP_011517179.1:p.Tyr447Ser
XM_011518878.3:c.1349A>C	XP_011517180.1:p.Tyr450Ser
XM_011518879.3:c.1340A>C	XP_011517181.1:p.Tyr447Ser
XM_011518881.3:c.695A>C	XP_011517183.1:p.Tyr232Ser
XM_017014931.1:c.1139A>C	XP_016870420.1:p.Tyr380Ser
XM_017014932.1:c.962A>C	XP_016870421.1:p.Tyr321Ser
XM_017014933.1:c.695A>C	XP_016870422.1:p.Tyr232Ser
XM_024447617.1:c.695A>C	XP_024303385.1:p.Tyr232Ser
XM_024447618.1:c.695A>C	XP_024303386.1:p.Tyr232Ser
NM_020822.3:c.1205A>C MANE Select	NP_065873.2:p.Tyr402Ser
NM_001272003.2:c.1070A>C	NP_001258932.1:p.Tyr357Ser