Canonical Allele Identifier: CA375501420

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138657530C>T (hg19) ; chr9:g.135765684C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135765684C>T , CM000671.2:g.135765684C>T	GRCh38
NC_000009.11:g.138657530C>T , CM000671.1:g.138657530C>T	GRCh37
NC_000009.10:g.137797351C>T	NCBI36
NG_033070.1:g.68500C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.1261C>T MANE Select	ENSP00000360822.2:p.Gln421Ter
ENST00000674572.1:c.1102C>T	ENSP00000501742.1:p.Gln368Ter
ENST00000675090.1:c.1009C>T	ENSP00000501833.1:p.Gln337Ter
ENST00000675399.1:c.1009C>T	ENSP00000501932.1:p.Gln337Ter
ENST00000676421.1:c.1018C>T	ENSP00000502322.1:p.Gln340Ter
ENST00000263604.5:c.1162C>T	ENSP00000263604.4:p.Gln388Ter
ENST00000371757.6:c.1261C>T	ENSP00000360822.2:p.Gln421Ter
ENST00000460750.5:c.*871C>T	ENSP00000418777.1:n.*871C>T
ENST00000486577.6:c.1144C>T	ENSP00000417578.3:p.Gln382Ter
ENST00000487664.5:c.1261C>T	ENSP00000417851.2:p.Gln421Ter
ENST00000488444.6:c.1204C>T	ENSP00000419007.3:p.Gln402Ter
ENST00000490355.6:c.1204C>T	ENSP00000418003.3:p.Gln402Ter
ENST00000490363.3:n.1080C>T
ENST00000491806.6:c.1204C>T	ENSP00000419086.3:p.Gln402Ter
ENST00000628528.2:c.1126C>T	ENSP00000486374.1:p.Gln376Ter
ENST00000630792.2:c.1102C>T	ENSP00000486486.1:p.Gln368Ter
ENST00000631073.2:c.1204C>T	ENSP00000486130.1:p.Gln402Ter
NM_001272003.1:c.1126C>T	NP_001258932.1:p.Gln376Ter
NM_020822.2:c.1261C>T	NP_065873.2:p.Gln421Ter
XM_011518877.1:c.1396C>T	XP_011517179.1:p.Gln466Ter
XM_011518878.1:c.1405C>T	XP_011517180.1:p.Gln469Ter
XM_011518879.1:c.1396C>T	XP_011517181.1:p.Gln466Ter
XM_011518880.1:c.1162C>T	XP_011517182.1:p.Gln388Ter
XM_011518881.1:c.751C>T	XP_011517183.1:p.Gln251Ter
XM_011518877.3:c.1396C>T	XP_011517179.1:p.Gln466Ter
XM_011518878.3:c.1405C>T	XP_011517180.1:p.Gln469Ter
XM_011518879.3:c.1396C>T	XP_011517181.1:p.Gln466Ter
XM_011518881.3:c.751C>T	XP_011517183.1:p.Gln251Ter
XM_017014931.1:c.1195C>T	XP_016870420.1:p.Gln399Ter
XM_017014932.1:c.1018C>T	XP_016870421.1:p.Gln340Ter
XM_017014933.1:c.751C>T	XP_016870422.1:p.Gln251Ter
XM_024447617.1:c.751C>T	XP_024303385.1:p.Gln251Ter
XM_024447618.1:c.751C>T	XP_024303386.1:p.Gln251Ter
NM_020822.3:c.1261C>T MANE Select	NP_065873.2:p.Gln421Ter
NM_001272003.2:c.1126C>T	NP_001258932.1:p.Gln376Ter