Canonical Allele Identifier: CA375505998

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770025-T-C
• MyVariant Identifiers: chr9:g.138661871T>C (hg19) ; chr9:g.135770025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770025T>C , CM000671.2:g.135770025T>C	GRCh38
NC_000009.11:g.138661871T>C , CM000671.1:g.138661871T>C	GRCh37
NC_000009.10:g.137801692T>C	NCBI36
NG_033070.1:g.72841T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1589T>C MANE Select	ENSP00000360822.2:p.Ile530Thr
ENST00000674572.1:c.1430T>C	ENSP00000501742.1:p.Ile477Thr
ENST00000675090.1:c.1337T>C	ENSP00000501833.1:p.Ile446Thr
ENST00000675399.1:c.1337T>C	ENSP00000501932.1:p.Ile446Thr
ENST00000676421.1:c.1346T>C	ENSP00000502322.1:p.Ile449Thr
ENST00000263604.5:c.1490T>C	ENSP00000263604.4:p.Ile497Thr
ENST00000371757.6:c.1589T>C	ENSP00000360822.2:p.Ile530Thr
ENST00000460750.5:c.*1199T>C	ENSP00000418777.1:n.*1199T>C
ENST00000486577.6:c.1472T>C	ENSP00000417578.3:p.Ile491Thr
ENST00000487664.5:c.1589T>C	ENSP00000417851.2:p.Ile530Thr
ENST00000488444.6:c.1532T>C	ENSP00000419007.3:p.Ile511Thr
ENST00000490355.6:c.1532T>C	ENSP00000418003.3:p.Ile511Thr
ENST00000490363.3:n.1408T>C
ENST00000491806.6:c.1532T>C	ENSP00000419086.3:p.Ile511Thr
ENST00000628528.2:c.1454T>C	ENSP00000486374.1:p.Ile485Thr
ENST00000630792.2:c.1430T>C	ENSP00000486486.1:p.Ile477Thr
ENST00000631073.2:c.1532T>C	ENSP00000486130.1:p.Ile511Thr
NM_001272003.1:c.1454T>C	NP_001258932.1:p.Ile485Thr
NM_020822.2:c.1589T>C	NP_065873.2:p.Ile530Thr
XM_011518877.1:c.1724T>C	XP_011517179.1:p.Ile575Thr
XM_011518878.1:c.1733T>C	XP_011517180.1:p.Ile578Thr
XM_011518879.1:c.1724T>C	XP_011517181.1:p.Ile575Thr
XM_011518880.1:c.1490T>C	XP_011517182.1:p.Ile497Thr
XM_011518881.1:c.1079T>C	XP_011517183.1:p.Ile360Thr
XM_011518877.3:c.1724T>C	XP_011517179.1:p.Ile575Thr
XM_011518878.3:c.1733T>C	XP_011517180.1:p.Ile578Thr
XM_011518879.3:c.1724T>C	XP_011517181.1:p.Ile575Thr
XM_011518881.3:c.1079T>C	XP_011517183.1:p.Ile360Thr
XM_017014931.1:c.1523T>C	XP_016870420.1:p.Ile508Thr
XM_017014932.1:c.1346T>C	XP_016870421.1:p.Ile449Thr
XM_017014933.1:c.1079T>C	XP_016870422.1:p.Ile360Thr
XM_024447617.1:c.1079T>C	XP_024303385.1:p.Ile360Thr
XM_024447618.1:c.1079T>C	XP_024303386.1:p.Ile360Thr
NM_020822.3:c.1589T>C MANE Select	NP_065873.2:p.Ile530Thr
NM_001272003.2:c.1454T>C	NP_001258932.1:p.Ile485Thr