Canonical Allele Identifier: CA375506042

Gene: KCNT1

Linked Data

• gnomAD v4: 9-135770048-C-G
• MyVariant Identifiers: chr9:g.138661894C>G (hg19) ; chr9:g.135770048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770048C>G , CM000671.2:g.135770048C>G	GRCh38
NC_000009.11:g.138661894C>G , CM000671.1:g.138661894C>G	GRCh37
NC_000009.10:g.137801715C>G	NCBI36
NG_033070.1:g.72864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1612C>G MANE Select	ENSP00000360822.2:p.Arg538Gly
ENST00000674572.1:c.1453C>G	ENSP00000501742.1:p.Arg485Gly
ENST00000675090.1:c.1360C>G	ENSP00000501833.1:p.Arg454Gly
ENST00000675399.1:c.1360C>G	ENSP00000501932.1:p.Arg454Gly
ENST00000676421.1:c.1369C>G	ENSP00000502322.1:p.Arg457Gly
ENST00000263604.5:c.1513C>G	ENSP00000263604.4:p.Arg505Gly
ENST00000371757.6:c.1612C>G	ENSP00000360822.2:p.Arg538Gly
ENST00000460750.5:c.*1222C>G	ENSP00000418777.1:n.*1222C>G
ENST00000486577.6:c.1495C>G	ENSP00000417578.3:p.Arg499Gly
ENST00000487664.5:c.1612C>G	ENSP00000417851.2:p.Arg538Gly
ENST00000488444.6:c.1555C>G	ENSP00000419007.3:p.Arg519Gly
ENST00000490355.6:c.1555C>G	ENSP00000418003.3:p.Arg519Gly
ENST00000490363.3:n.1431C>G
ENST00000491806.6:c.1555C>G	ENSP00000419086.3:p.Arg519Gly
ENST00000628528.2:c.1477C>G	ENSP00000486374.1:p.Arg493Gly
ENST00000630792.2:c.1453C>G	ENSP00000486486.1:p.Arg485Gly
ENST00000631073.2:c.1555C>G	ENSP00000486130.1:p.Arg519Gly
NM_001272003.1:c.1477C>G	NP_001258932.1:p.Arg493Gly
NM_020822.2:c.1612C>G	NP_065873.2:p.Arg538Gly
XM_011518877.1:c.1747C>G	XP_011517179.1:p.Arg583Gly
XM_011518878.1:c.1756C>G	XP_011517180.1:p.Arg586Gly
XM_011518879.1:c.1747C>G	XP_011517181.1:p.Arg583Gly
XM_011518880.1:c.1513C>G	XP_011517182.1:p.Arg505Gly
XM_011518881.1:c.1102C>G	XP_011517183.1:p.Arg368Gly
XM_011518877.3:c.1747C>G	XP_011517179.1:p.Arg583Gly
XM_011518878.3:c.1756C>G	XP_011517180.1:p.Arg586Gly
XM_011518879.3:c.1747C>G	XP_011517181.1:p.Arg583Gly
XM_011518881.3:c.1102C>G	XP_011517183.1:p.Arg368Gly
XM_017014931.1:c.1546C>G	XP_016870420.1:p.Arg516Gly
XM_017014932.1:c.1369C>G	XP_016870421.1:p.Arg457Gly
XM_017014933.1:c.1102C>G	XP_016870422.1:p.Arg368Gly
XM_024447617.1:c.1102C>G	XP_024303385.1:p.Arg368Gly
XM_024447618.1:c.1102C>G	XP_024303386.1:p.Arg368Gly
NM_020822.3:c.1612C>G MANE Select	NP_065873.2:p.Arg538Gly
NM_001272003.2:c.1477C>G	NP_001258932.1:p.Arg493Gly