Canonical Allele Identifier: CA375512230

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138667193G>C (hg19) ; chr9:g.135775347G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135775347G>C , CM000671.2:g.135775347G>C	GRCh38
NC_000009.11:g.138667193G>C , CM000671.1:g.138667193G>C	GRCh37
NC_000009.10:g.137807014G>C	NCBI36
NG_033070.1:g.78163G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.2281G>C MANE Select	ENSP00000360822.2:p.Gly761Arg
ENST00000674572.1:c.2122G>C	ENSP00000501742.1:p.Gly708Arg
ENST00000675090.1:c.2029G>C	ENSP00000501833.1:p.Gly677Arg
ENST00000675399.1:c.2029G>C	ENSP00000501932.1:p.Gly677Arg
ENST00000676421.1:c.2038G>C	ENSP00000502322.1:p.Gly680Arg
ENST00000263604.5:c.2182G>C	ENSP00000263604.4:p.Gly728Arg
ENST00000371757.6:c.2281G>C	ENSP00000360822.2:p.Gly761Arg
ENST00000460750.5:c.*1891G>C	ENSP00000418777.1:n.*1891G>C
ENST00000486577.6:c.2164G>C	ENSP00000417578.3:p.Gly722Arg
ENST00000487664.5:c.2281G>C	ENSP00000417851.2:p.Gly761Arg
ENST00000488444.6:c.2224G>C	ENSP00000419007.3:p.Gly742Arg
ENST00000490355.6:c.2218G>C	ENSP00000418003.3:p.Gly740Arg
ENST00000490363.3:n.2100G>C
ENST00000491806.6:c.2224G>C	ENSP00000419086.3:p.Gly742Arg
ENST00000628528.2:c.2146G>C	ENSP00000486374.1:p.Gly716Arg
ENST00000630792.2:c.2116G>C	ENSP00000486486.1:p.Gly706Arg
ENST00000631073.2:c.2224G>C	ENSP00000486130.1:p.Gly742Arg
ENST00000631193.1:c.130G>C	ENSP00000486830.1:p.Gly44Arg
NM_001272003.1:c.2146G>C	NP_001258932.1:p.Gly716Arg
NM_020822.2:c.2281G>C	NP_065873.2:p.Gly761Arg
XM_011518877.1:c.2416G>C	XP_011517179.1:p.Gly806Arg
XM_011518878.1:c.2425G>C	XP_011517180.1:p.Gly809Arg
XM_011518879.1:c.2416G>C	XP_011517181.1:p.Gly806Arg
XM_011518880.1:c.2182G>C	XP_011517182.1:p.Gly728Arg
XM_011518881.1:c.1771G>C	XP_011517183.1:p.Gly591Arg
XM_011518877.3:c.2416G>C	XP_011517179.1:p.Gly806Arg
XM_011518878.3:c.2425G>C	XP_011517180.1:p.Gly809Arg
XM_011518879.3:c.2416G>C	XP_011517181.1:p.Gly806Arg
XM_011518881.3:c.1771G>C	XP_011517183.1:p.Gly591Arg
XM_017014931.1:c.2215G>C	XP_016870420.1:p.Gly739Arg
XM_017014932.1:c.2038G>C	XP_016870421.1:p.Gly680Arg
XM_017014933.1:c.1771G>C	XP_016870422.1:p.Gly591Arg
XM_024447617.1:c.1771G>C	XP_024303385.1:p.Gly591Arg
XM_024447618.1:c.1771G>C	XP_024303386.1:p.Gly591Arg
NM_020822.3:c.2281G>C MANE Select	NP_065873.2:p.Gly761Arg
NM_001272003.2:c.2146G>C	NP_001258932.1:p.Gly716Arg