Canonical Allele Identifier: CA375494842

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2663055
• ClinVar RCV Id: RCV003442243
• MyVariant Identifiers: chr9:g.138642012A>C (hg19) ; chr9:g.135750166A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135750166A>C , CM000671.2:g.135750166A>C	GRCh38
NC_000009.11:g.138642012A>C , CM000671.1:g.138642012A>C	GRCh37
NC_000009.10:g.137781833A>C	NCBI36
NG_033070.1:g.52982A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.323A>C MANE Select	ENSP00000360822.2:p.Asn108Thr
ENST00000637018.1:n.128A>C
ENST00000638123.1:n.58A>C
ENST00000674572.1:c.164A>C	ENSP00000501742.1:p.Asn55Thr
ENST00000675090.1:c.71A>C	ENSP00000501833.1:p.Asn24Thr
ENST00000675399.1:c.71A>C	ENSP00000501932.1:p.Asn24Thr
ENST00000676421.1:c.71A>C	ENSP00000502322.1:p.Asn24Thr
ENST00000263604.5:c.224A>C	ENSP00000263604.4:p.Asn75Thr
ENST00000371757.6:c.323A>C	ENSP00000360822.2:p.Asn108Thr
ENST00000460750.5:c.323A>C	ENSP00000418777.1:p.Asn108Thr
ENST00000473941.5:c.164A>C	ENSP00000420764.1:p.Asn55Thr
ENST00000486577.6:c.206A>C	ENSP00000417578.3:p.Asn69Thr
ENST00000487664.5:c.323A>C	ENSP00000417851.2:p.Asn108Thr
ENST00000488444.6:c.266A>C	ENSP00000419007.3:p.Asn89Thr
ENST00000490355.6:c.266A>C	ENSP00000418003.3:p.Asn89Thr
ENST00000491806.6:c.266A>C	ENSP00000419086.3:p.Asn89Thr
ENST00000628528.2:c.179A>C	ENSP00000486374.1:p.Asn60Thr
ENST00000630792.2:c.164A>C	ENSP00000486486.1:p.Asn55Thr
ENST00000631073.2:c.266A>C	ENSP00000486130.1:p.Asn89Thr
NM_001272003.1:c.179A>C	NP_001258932.1:p.Asn60Thr
NM_020822.2:c.323A>C	NP_065873.2:p.Asn108Thr
XM_011518877.1:c.458A>C	XP_011517179.1:p.Asn153Thr
XM_011518878.1:c.458A>C	XP_011517180.1:p.Asn153Thr
XM_011518879.1:c.458A>C	XP_011517181.1:p.Asn153Thr
XM_011518880.1:c.224A>C	XP_011517182.1:p.Asn75Thr
XM_011518877.3:c.458A>C	XP_011517179.1:p.Asn153Thr
XM_011518878.3:c.458A>C	XP_011517180.1:p.Asn153Thr
XM_011518879.3:c.458A>C	XP_011517181.1:p.Asn153Thr
XM_017014931.1:c.348A>C	XP_016870420.1:p.Lys116Asn
XM_017014932.1:c.71A>C	XP_016870421.1:p.Asn24Thr
XM_017014933.1:c.-97A>C	XP_016870422.1:n.-97A>C
XM_024447617.1:c.-197A>C	XP_024303385.1:n.-197A>C
XM_024447618.1:c.-197A>C	XP_024303386.1:n.-197A>C
NM_020822.3:c.323A>C MANE Select	NP_065873.2:p.Asn108Thr
NM_001272003.2:c.179A>C	NP_001258932.1:p.Asn60Thr