Canonical Allele Identifier: CA375494736

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2942793
• ClinVar RCV Id: RCV003807959
• gnomAD v4: 9-135750121-A-G
• MyVariant Identifiers: chr9:g.138641967A>G (hg19) ; chr9:g.135750121A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750121A>G , CM000671.2:g.135750121A>G	GRCh38
NC_000009.11:g.138641967A>G , CM000671.1:g.138641967A>G	GRCh37
NC_000009.10:g.137781788A>G	NCBI36
NG_033070.1:g.52937A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.278A>G MANE Select	ENSP00000360822.2:p.Asn93Ser
ENST00000637018.1:n.83A>G
ENST00000638123.1:n.13A>G
ENST00000674572.1:c.119A>G	ENSP00000501742.1:p.Asn40Ser
ENST00000675090.1:c.26A>G	ENSP00000501833.1:p.Asn9Ser
ENST00000675399.1:c.26A>G	ENSP00000501932.1:p.Asn9Ser
ENST00000676421.1:c.26A>G	ENSP00000502322.1:p.Asn9Ser
ENST00000263604.5:c.179A>G	ENSP00000263604.4:p.Asn60Ser
ENST00000371757.6:c.278A>G	ENSP00000360822.2:p.Asn93Ser
ENST00000460750.5:c.278A>G	ENSP00000418777.1:p.Asn93Ser
ENST00000473941.5:c.119A>G	ENSP00000420764.1:p.Asn40Ser
ENST00000486577.6:c.161A>G	ENSP00000417578.3:p.Asn54Ser
ENST00000487664.5:c.278A>G	ENSP00000417851.2:p.Asn93Ser
ENST00000488444.6:c.221A>G	ENSP00000419007.3:p.Asn74Ser
ENST00000490355.6:c.221A>G	ENSP00000418003.3:p.Asn74Ser
ENST00000491806.6:c.221A>G	ENSP00000419086.3:p.Asn74Ser
ENST00000628528.2:c.134A>G	ENSP00000486374.1:p.Asn45Ser
ENST00000630792.2:c.119A>G	ENSP00000486486.1:p.Asn40Ser
ENST00000631073.2:c.221A>G	ENSP00000486130.1:p.Asn74Ser
NM_001272003.1:c.134A>G	NP_001258932.1:p.Asn45Ser
NM_020822.2:c.278A>G	NP_065873.2:p.Asn93Ser
XM_011518877.1:c.413A>G	XP_011517179.1:p.Asn138Ser
XM_011518878.1:c.413A>G	XP_011517180.1:p.Asn138Ser
XM_011518879.1:c.413A>G	XP_011517181.1:p.Asn138Ser
XM_011518880.1:c.179A>G	XP_011517182.1:p.Asn60Ser
XM_011518877.3:c.413A>G	XP_011517179.1:p.Asn138Ser
XM_011518878.3:c.413A>G	XP_011517180.1:p.Asn138Ser
XM_011518879.3:c.413A>G	XP_011517181.1:p.Asn138Ser
XM_017014931.1:c.303A>G	XP_016870420.1:p.Gln101=
XM_017014932.1:c.26A>G	XP_016870421.1:p.Asn9Ser
XM_017014933.1:c.-142A>G	XP_016870422.1:n.-142A>G
XM_024447617.1:c.-242A>G	XP_024303385.1:n.-242A>G
XM_024447618.1:c.-242A>G	XP_024303386.1:n.-242A>G
NM_020822.3:c.278A>G MANE Select	NP_065873.2:p.Asn93Ser
NM_001272003.2:c.134A>G	NP_001258932.1:p.Asn45Ser