Canonical Allele Identifier: CA375492000

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138678264C>G (hg19) ; chr9:g.135786418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135786418C>G , CM000671.2:g.135786418C>G	GRCh38
NC_000009.11:g.138678264C>G , CM000671.1:g.138678264C>G	GRCh37
NC_000009.10:g.137818085C>G	NCBI36
NG_033070.1:g.89234C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3399C>G MANE Select	ENSP00000360822.2:p.Ile1133Met
ENST00000674572.1:c.3240C>G	ENSP00000501742.1:p.Ile1080Met
ENST00000675090.1:c.3147C>G	ENSP00000501833.1:p.Ile1049Met
ENST00000675399.1:c.3147C>G	ENSP00000501932.1:p.Ile1049Met
ENST00000676421.1:c.3156C>G	ENSP00000502322.1:p.Ile1052Met
ENST00000263604.5:c.3300C>G	ENSP00000263604.4:p.Ile1100Met
ENST00000371757.6:c.3399C>G	ENSP00000360822.2:p.Ile1133Met
ENST00000460750.5:c.*3009C>G	ENSP00000418777.1:n.*3009C>G
ENST00000486577.6:c.3282C>G	ENSP00000417578.3:p.Ile1094Met
ENST00000487664.5:c.3399C>G	ENSP00000417851.2:p.Ile1133Met
ENST00000488444.6:c.3321C>G	ENSP00000419007.3:p.Ile1107Met
ENST00000490355.6:c.3336C>G	ENSP00000418003.3:p.Ile1112Met
ENST00000491806.6:c.3342C>G	ENSP00000419086.3:p.Ile1114Met
ENST00000628528.2:c.3264C>G	ENSP00000486374.1:p.Ile1088Met
ENST00000630792.2:c.3234C>G	ENSP00000486486.1:p.Ile1078Met
ENST00000631073.2:c.3342C>G	ENSP00000486130.1:p.Ile1114Met
NM_001272003.1:c.3264C>G	NP_001258932.1:p.Ile1088Met
NM_020822.2:c.3399C>G	NP_065873.2:p.Ile1133Met
XM_011518877.1:c.3534C>G	XP_011517179.1:p.Ile1178Met
XM_011518878.1:c.3543C>G	XP_011517180.1:p.Ile1181Met
XM_011518879.1:c.3534C>G	XP_011517181.1:p.Ile1178Met
XM_011518880.1:c.3300C>G	XP_011517182.1:p.Ile1100Met
XM_011518881.1:c.2889C>G	XP_011517183.1:p.Ile963Met
XM_011518877.3:c.3534C>G	XP_011517179.1:p.Ile1178Met
XM_011518878.3:c.3543C>G	XP_011517180.1:p.Ile1181Met
XM_011518879.3:c.3534C>G	XP_011517181.1:p.Ile1178Met
XM_011518881.3:c.2889C>G	XP_011517183.1:p.Ile963Met
XM_017014931.1:c.3333C>G	XP_016870420.1:p.Ile1111Met
XM_017014932.1:c.3156C>G	XP_016870421.1:p.Ile1052Met
XM_017014933.1:c.2889C>G	XP_016870422.1:p.Ile963Met
XM_024447617.1:c.2889C>G	XP_024303385.1:p.Ile963Met
XM_024447618.1:c.2889C>G	XP_024303386.1:p.Ile963Met
NM_020822.3:c.3399C>G MANE Select	NP_065873.2:p.Ile1133Met
NM_001272003.2:c.3264C>G	NP_001258932.1:p.Ile1088Met