Canonical Allele Identifier: CA375506222

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662170G>C (hg19) ; chr9:g.135770324G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770324G>C , CM000671.2:g.135770324G>C	GRCh38
NC_000009.11:g.138662170G>C , CM000671.1:g.138662170G>C	GRCh37
NC_000009.10:g.137801991G>C	NCBI36
NG_033070.1:g.73140G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1646G>C MANE Select	ENSP00000360822.2:p.Trp549Ser
ENST00000674572.1:c.1487G>C	ENSP00000501742.1:p.Trp496Ser
ENST00000675090.1:c.1394G>C	ENSP00000501833.1:p.Trp465Ser
ENST00000675399.1:c.1394G>C	ENSP00000501932.1:p.Trp465Ser
ENST00000676421.1:c.1403G>C	ENSP00000502322.1:p.Trp468Ser
ENST00000263604.5:c.1547G>C	ENSP00000263604.4:p.Trp516Ser
ENST00000371757.6:c.1646G>C	ENSP00000360822.2:p.Trp549Ser
ENST00000460750.5:c.*1256G>C	ENSP00000418777.1:n.*1256G>C
ENST00000486577.6:c.1529G>C	ENSP00000417578.3:p.Trp510Ser
ENST00000487664.5:c.1646G>C	ENSP00000417851.2:p.Trp549Ser
ENST00000488444.6:c.1589G>C	ENSP00000419007.3:p.Trp530Ser
ENST00000490355.6:c.1589G>C	ENSP00000418003.3:p.Trp530Ser
ENST00000490363.3:n.1465G>C
ENST00000491806.6:c.1589G>C	ENSP00000419086.3:p.Trp530Ser
ENST00000628528.2:c.1511G>C	ENSP00000486374.1:p.Trp504Ser
ENST00000630792.2:c.1487G>C	ENSP00000486486.1:p.Trp496Ser
ENST00000631073.2:c.1589G>C	ENSP00000486130.1:p.Trp530Ser
NM_001272003.1:c.1511G>C	NP_001258932.1:p.Trp504Ser
NM_020822.2:c.1646G>C	NP_065873.2:p.Trp549Ser
XM_011518877.1:c.1781G>C	XP_011517179.1:p.Trp594Ser
XM_011518878.1:c.1790G>C	XP_011517180.1:p.Trp597Ser
XM_011518879.1:c.1781G>C	XP_011517181.1:p.Trp594Ser
XM_011518880.1:c.1547G>C	XP_011517182.1:p.Trp516Ser
XM_011518881.1:c.1136G>C	XP_011517183.1:p.Trp379Ser
XM_011518877.3:c.1781G>C	XP_011517179.1:p.Trp594Ser
XM_011518878.3:c.1790G>C	XP_011517180.1:p.Trp597Ser
XM_011518879.3:c.1781G>C	XP_011517181.1:p.Trp594Ser
XM_011518881.3:c.1136G>C	XP_011517183.1:p.Trp379Ser
XM_017014931.1:c.1580G>C	XP_016870420.1:p.Trp527Ser
XM_017014932.1:c.1403G>C	XP_016870421.1:p.Trp468Ser
XM_017014933.1:c.1136G>C	XP_016870422.1:p.Trp379Ser
XM_024447617.1:c.1136G>C	XP_024303385.1:p.Trp379Ser
XM_024447618.1:c.1136G>C	XP_024303386.1:p.Trp379Ser
NM_020822.3:c.1646G>C MANE Select	NP_065873.2:p.Trp549Ser
NM_001272003.2:c.1511G>C	NP_001258932.1:p.Trp504Ser