Canonical Allele Identifier: CA375506301

Gene: KCNT1

Linked Data

• dbSNP Id: rs1165327237
• gnomAD v4: 9-135770334-G-T
• MyVariant Identifiers: chr9:g.138662180G>T (hg19) ; chr9:g.135770334G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770334G>T , CM000671.2:g.135770334G>T	GRCh38
NC_000009.11:g.138662180G>T , CM000671.1:g.138662180G>T	GRCh37
NC_000009.10:g.137802001G>T	NCBI36
NG_033070.1:g.73150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1656G>T MANE Select	ENSP00000360822.2:p.Met552Ile
ENST00000674572.1:c.1497G>T	ENSP00000501742.1:p.Met499Ile
ENST00000675090.1:c.1404G>T	ENSP00000501833.1:p.Met468Ile
ENST00000675399.1:c.1404G>T	ENSP00000501932.1:p.Met468Ile
ENST00000676421.1:c.1413G>T	ENSP00000502322.1:p.Met471Ile
ENST00000263604.5:c.1557G>T	ENSP00000263604.4:p.Met519Ile
ENST00000371757.6:c.1656G>T	ENSP00000360822.2:p.Met552Ile
ENST00000460750.5:c.*1266G>T	ENSP00000418777.1:n.*1266G>T
ENST00000486577.6:c.1539G>T	ENSP00000417578.3:p.Met513Ile
ENST00000487664.5:c.1656G>T	ENSP00000417851.2:p.Met552Ile
ENST00000488444.6:c.1599G>T	ENSP00000419007.3:p.Met533Ile
ENST00000490355.6:c.1599G>T	ENSP00000418003.3:p.Met533Ile
ENST00000490363.3:n.1475G>T
ENST00000491806.6:c.1599G>T	ENSP00000419086.3:p.Met533Ile
ENST00000628528.2:c.1521G>T	ENSP00000486374.1:p.Met507Ile
ENST00000630792.2:c.1497G>T	ENSP00000486486.1:p.Met499Ile
ENST00000631073.2:c.1599G>T	ENSP00000486130.1:p.Met533Ile
NM_001272003.1:c.1521G>T	NP_001258932.1:p.Met507Ile
NM_020822.2:c.1656G>T	NP_065873.2:p.Met552Ile
XM_011518877.1:c.1791G>T	XP_011517179.1:p.Met597Ile
XM_011518878.1:c.1800G>T	XP_011517180.1:p.Met600Ile
XM_011518879.1:c.1791G>T	XP_011517181.1:p.Met597Ile
XM_011518880.1:c.1557G>T	XP_011517182.1:p.Met519Ile
XM_011518881.1:c.1146G>T	XP_011517183.1:p.Met382Ile
XM_011518877.3:c.1791G>T	XP_011517179.1:p.Met597Ile
XM_011518878.3:c.1800G>T	XP_011517180.1:p.Met600Ile
XM_011518879.3:c.1791G>T	XP_011517181.1:p.Met597Ile
XM_011518881.3:c.1146G>T	XP_011517183.1:p.Met382Ile
XM_017014931.1:c.1590G>T	XP_016870420.1:p.Met530Ile
XM_017014932.1:c.1413G>T	XP_016870421.1:p.Met471Ile
XM_017014933.1:c.1146G>T	XP_016870422.1:p.Met382Ile
XM_024447617.1:c.1146G>T	XP_024303385.1:p.Met382Ile
XM_024447618.1:c.1146G>T	XP_024303386.1:p.Met382Ile
NM_020822.3:c.1656G>T MANE Select	NP_065873.2:p.Met552Ile
NM_001272003.2:c.1521G>T	NP_001258932.1:p.Met507Ile