Canonical Allele Identifier: CA5326360

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2028299
• ClinVar RCV Id: RCV002876070
• dbSNP Id: rs764504563
• ExAC: 9:138641977 C / G
• gnomAD v2: 9-138641977-C-G
• gnomAD v3: 9-135750131-C-G
• gnomAD v4: 9-135750131-C-G
• MyVariant Identifiers: chr9:g.138641977C>G (hg19) ; chr9:g.135750131C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750131C>G , CM000671.2:g.135750131C>G	GRCh38
NC_000009.11:g.138641977C>G , CM000671.1:g.138641977C>G	GRCh37
NC_000009.10:g.137781798C>G	NCBI36
NG_033070.1:g.52947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.288C>G MANE Select	ENSP00000360822.2:p.Thr96=
ENST00000637018.1:n.93C>G
ENST00000638123.1:n.23C>G
ENST00000674572.1:c.129C>G	ENSP00000501742.1:p.Thr43=
ENST00000675090.1:c.36C>G	ENSP00000501833.1:p.Thr12=
ENST00000675399.1:c.36C>G	ENSP00000501932.1:p.Thr12=
ENST00000676421.1:c.36C>G	ENSP00000502322.1:p.Thr12=
ENST00000263604.5:c.189C>G	ENSP00000263604.4:p.Thr63=
ENST00000371757.6:c.288C>G	ENSP00000360822.2:p.Thr96=
ENST00000460750.5:c.288C>G	ENSP00000418777.1:p.Thr96=
ENST00000473941.5:c.129C>G	ENSP00000420764.1:p.Thr43=
ENST00000486577.6:c.171C>G	ENSP00000417578.3:p.Thr57=
ENST00000487664.5:c.288C>G	ENSP00000417851.2:p.Thr96=
ENST00000488444.6:c.231C>G	ENSP00000419007.3:p.Thr77=
ENST00000490355.6:c.231C>G	ENSP00000418003.3:p.Thr77=
ENST00000491806.6:c.231C>G	ENSP00000419086.3:p.Thr77=
ENST00000628528.2:c.144C>G	ENSP00000486374.1:p.Thr48=
ENST00000630792.2:c.129C>G	ENSP00000486486.1:p.Thr43=
ENST00000631073.2:c.231C>G	ENSP00000486130.1:p.Thr77=
NM_001272003.1:c.144C>G	NP_001258932.1:p.Thr48=
NM_020822.2:c.288C>G	NP_065873.2:p.Thr96=
XM_011518877.1:c.423C>G	XP_011517179.1:p.Thr141=
XM_011518878.1:c.423C>G	XP_011517180.1:p.Thr141=
XM_011518879.1:c.423C>G	XP_011517181.1:p.Thr141=
XM_011518880.1:c.189C>G	XP_011517182.1:p.Thr63=
XM_011518877.3:c.423C>G	XP_011517179.1:p.Thr141=
XM_011518878.3:c.423C>G	XP_011517180.1:p.Thr141=
XM_011518879.3:c.423C>G	XP_011517181.1:p.Thr141=
XM_017014931.1:c.313C>G	XP_016870420.1:p.Leu105Val
XM_017014932.1:c.36C>G	XP_016870421.1:p.Thr12=
XM_017014933.1:c.-132C>G	XP_016870422.1:n.-132C>G
XM_024447617.1:c.-232C>G	XP_024303385.1:n.-232C>G
XM_024447618.1:c.-232C>G	XP_024303386.1:n.-232C>G
NM_020822.3:c.288C>G MANE Select	NP_065873.2:p.Thr96=
NM_001272003.2:c.144C>G	NP_001258932.1:p.Thr48=