Canonical Allele Identifier: CA467698448

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770053-C-T
• MyVariant Identifiers: chr9:g.138661899C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770053C>T , CM000671.2:g.135770053C>T	GRCh38
NC_000009.11:g.138661899C>T , CM000671.1:g.138661899C>T	GRCh37
NC_000009.10:g.137801720C>T	NCBI36
NG_033070.1:g.72869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1617C>T MANE Select	ENSP00000360822.2:p.Gly539=
ENST00000674572.1:c.1458C>T	ENSP00000501742.1:p.Gly486=
ENST00000675090.1:c.1365C>T	ENSP00000501833.1:p.Gly455=
ENST00000675399.1:c.1365C>T	ENSP00000501932.1:p.Gly455=
ENST00000676421.1:c.1374C>T	ENSP00000502322.1:p.Gly458=
ENST00000263604.5:c.1518C>T	ENSP00000263604.4:p.Gly506=
ENST00000371757.6:c.1617C>T	ENSP00000360822.2:p.Gly539=
ENST00000460750.5:c.*1227C>T	ENSP00000418777.1:n.*1227C>T
ENST00000486577.6:c.1500C>T	ENSP00000417578.3:p.Gly500=
ENST00000487664.5:c.1617C>T	ENSP00000417851.2:p.Gly539=
ENST00000488444.6:c.1560C>T	ENSP00000419007.3:p.Gly520=
ENST00000490355.6:c.1560C>T	ENSP00000418003.3:p.Gly520=
ENST00000490363.3:n.1436C>T
ENST00000491806.6:c.1560C>T	ENSP00000419086.3:p.Gly520=
ENST00000628528.2:c.1482C>T	ENSP00000486374.1:p.Gly494=
ENST00000630792.2:c.1458C>T	ENSP00000486486.1:p.Gly486=
ENST00000631073.2:c.1560C>T	ENSP00000486130.1:p.Gly520=
NM_001272003.1:c.1482C>T	NP_001258932.1:p.Gly494=
NM_020822.2:c.1617C>T	NP_065873.2:p.Gly539=
XM_011518877.1:c.1752C>T	XP_011517179.1:p.Gly584=
XM_011518878.1:c.1761C>T	XP_011517180.1:p.Gly587=
XM_011518879.1:c.1752C>T	XP_011517181.1:p.Gly584=
XM_011518880.1:c.1518C>T	XP_011517182.1:p.Gly506=
XM_011518881.1:c.1107C>T	XP_011517183.1:p.Gly369=
XM_011518877.3:c.1752C>T	XP_011517179.1:p.Gly584=
XM_011518878.3:c.1761C>T	XP_011517180.1:p.Gly587=
XM_011518879.3:c.1752C>T	XP_011517181.1:p.Gly584=
XM_011518881.3:c.1107C>T	XP_011517183.1:p.Gly369=
XM_017014931.1:c.1551C>T	XP_016870420.1:p.Gly517=
XM_017014932.1:c.1374C>T	XP_016870421.1:p.Gly458=
XM_017014933.1:c.1107C>T	XP_016870422.1:p.Gly369=
XM_024447617.1:c.1107C>T	XP_024303385.1:p.Gly369=
XM_024447618.1:c.1107C>T	XP_024303386.1:p.Gly369=
NM_020822.3:c.1617C>T MANE Select	NP_065873.2:p.Gly539=
NM_001272003.2:c.1482C>T	NP_001258932.1:p.Gly494=