Canonical Allele Identifier: CA375505895

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138661823A>C (hg19) ; chr9:g.135769977A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769977A>C , CM000671.2:g.135769977A>C	GRCh38
NC_000009.11:g.138661823A>C , CM000671.1:g.138661823A>C	GRCh37
NC_000009.10:g.137801644A>C	NCBI36
NG_033070.1:g.72793A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1541A>C MANE Select	ENSP00000360822.2:p.Tyr514Ser
ENST00000674572.1:c.1382A>C	ENSP00000501742.1:p.Tyr461Ser
ENST00000675090.1:c.1289A>C	ENSP00000501833.1:p.Tyr430Ser
ENST00000675399.1:c.1289A>C	ENSP00000501932.1:p.Tyr430Ser
ENST00000676421.1:c.1298A>C	ENSP00000502322.1:p.Tyr433Ser
ENST00000263604.5:c.1442A>C	ENSP00000263604.4:p.Tyr481Ser
ENST00000371757.6:c.1541A>C	ENSP00000360822.2:p.Tyr514Ser
ENST00000460750.5:c.*1151A>C	ENSP00000418777.1:n.*1151A>C
ENST00000486577.6:c.1424A>C	ENSP00000417578.3:p.Tyr475Ser
ENST00000487664.5:c.1541A>C	ENSP00000417851.2:p.Tyr514Ser
ENST00000488444.6:c.1484A>C	ENSP00000419007.3:p.Tyr495Ser
ENST00000490355.6:c.1484A>C	ENSP00000418003.3:p.Tyr495Ser
ENST00000490363.3:n.1360A>C
ENST00000491806.6:c.1484A>C	ENSP00000419086.3:p.Tyr495Ser
ENST00000628528.2:c.1406A>C	ENSP00000486374.1:p.Tyr469Ser
ENST00000630792.2:c.1382A>C	ENSP00000486486.1:p.Tyr461Ser
ENST00000631073.2:c.1484A>C	ENSP00000486130.1:p.Tyr495Ser
NM_001272003.1:c.1406A>C	NP_001258932.1:p.Tyr469Ser
NM_020822.2:c.1541A>C	NP_065873.2:p.Tyr514Ser
XM_011518877.1:c.1676A>C	XP_011517179.1:p.Tyr559Ser
XM_011518878.1:c.1685A>C	XP_011517180.1:p.Tyr562Ser
XM_011518879.1:c.1676A>C	XP_011517181.1:p.Tyr559Ser
XM_011518880.1:c.1442A>C	XP_011517182.1:p.Tyr481Ser
XM_011518881.1:c.1031A>C	XP_011517183.1:p.Tyr344Ser
XM_011518877.3:c.1676A>C	XP_011517179.1:p.Tyr559Ser
XM_011518878.3:c.1685A>C	XP_011517180.1:p.Tyr562Ser
XM_011518879.3:c.1676A>C	XP_011517181.1:p.Tyr559Ser
XM_011518881.3:c.1031A>C	XP_011517183.1:p.Tyr344Ser
XM_017014931.1:c.1475A>C	XP_016870420.1:p.Tyr492Ser
XM_017014932.1:c.1298A>C	XP_016870421.1:p.Tyr433Ser
XM_017014933.1:c.1031A>C	XP_016870422.1:p.Tyr344Ser
XM_024447617.1:c.1031A>C	XP_024303385.1:p.Tyr344Ser
XM_024447618.1:c.1031A>C	XP_024303386.1:p.Tyr344Ser
NM_020822.3:c.1541A>C MANE Select	NP_065873.2:p.Tyr514Ser
NM_001272003.2:c.1406A>C	NP_001258932.1:p.Tyr469Ser