Canonical Allele Identifier: CA375506712

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662251A>C (hg19) ; chr9:g.135770405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770405A>C , CM000671.2:g.135770405A>C	GRCh38
NC_000009.11:g.138662251A>C , CM000671.1:g.138662251A>C	GRCh37
NC_000009.10:g.137802072A>C	NCBI36
NG_033070.1:g.73221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1727A>C MANE Select	ENSP00000360822.2:p.Glu576Ala
ENST00000674572.1:c.1568A>C	ENSP00000501742.1:p.Glu523Ala
ENST00000675090.1:c.1475A>C	ENSP00000501833.1:p.Glu492Ala
ENST00000675399.1:c.1475A>C	ENSP00000501932.1:p.Glu492Ala
ENST00000676421.1:c.1484A>C	ENSP00000502322.1:p.Glu495Ala
ENST00000263604.5:c.1628A>C	ENSP00000263604.4:p.Glu543Ala
ENST00000371757.6:c.1727A>C	ENSP00000360822.2:p.Glu576Ala
ENST00000460750.5:c.*1337A>C	ENSP00000418777.1:n.*1337A>C
ENST00000486577.6:c.1610A>C	ENSP00000417578.3:p.Glu537Ala
ENST00000487664.5:c.1727A>C	ENSP00000417851.2:p.Glu576Ala
ENST00000488444.6:c.1670A>C	ENSP00000419007.3:p.Glu557Ala
ENST00000490355.6:c.1670A>C	ENSP00000418003.3:p.Glu557Ala
ENST00000490363.3:n.1546A>C
ENST00000491806.6:c.1670A>C	ENSP00000419086.3:p.Glu557Ala
ENST00000628528.2:c.1592A>C	ENSP00000486374.1:p.Glu531Ala
ENST00000630792.2:c.1568A>C	ENSP00000486486.1:p.Glu523Ala
ENST00000631073.2:c.1670A>C	ENSP00000486130.1:p.Glu557Ala
NM_001272003.1:c.1592A>C	NP_001258932.1:p.Glu531Ala
NM_020822.2:c.1727A>C	NP_065873.2:p.Glu576Ala
XM_011518877.1:c.1862A>C	XP_011517179.1:p.Glu621Ala
XM_011518878.1:c.1871A>C	XP_011517180.1:p.Glu624Ala
XM_011518879.1:c.1862A>C	XP_011517181.1:p.Glu621Ala
XM_011518880.1:c.1628A>C	XP_011517182.1:p.Glu543Ala
XM_011518881.1:c.1217A>C	XP_011517183.1:p.Glu406Ala
XM_011518877.3:c.1862A>C	XP_011517179.1:p.Glu621Ala
XM_011518878.3:c.1871A>C	XP_011517180.1:p.Glu624Ala
XM_011518879.3:c.1862A>C	XP_011517181.1:p.Glu621Ala
XM_011518881.3:c.1217A>C	XP_011517183.1:p.Glu406Ala
XM_017014931.1:c.1661A>C	XP_016870420.1:p.Glu554Ala
XM_017014932.1:c.1484A>C	XP_016870421.1:p.Glu495Ala
XM_017014933.1:c.1217A>C	XP_016870422.1:p.Glu406Ala
XM_024447617.1:c.1217A>C	XP_024303385.1:p.Glu406Ala
XM_024447618.1:c.1217A>C	XP_024303386.1:p.Glu406Ala
NM_020822.3:c.1727A>C MANE Select	NP_065873.2:p.Glu576Ala
NM_001272003.2:c.1592A>C	NP_001258932.1:p.Glu531Ala