Canonical Allele Identifier: CA375493737

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138683652A>G (hg19) ; chr9:g.135791806A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791806A>G , CM000671.2:g.135791806A>G	GRCh38
NC_000009.11:g.138683652A>G , CM000671.1:g.138683652A>G	GRCh37
NC_000009.10:g.137823473A>G	NCBI36
NG_033070.1:g.94622A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3512A>G MANE Select	ENSP00000360822.2:p.Asn1171Ser
ENST00000674572.1:c.3416A>G	ENSP00000501742.1:p.Asn1139Ser
ENST00000675090.1:c.3260A>G	ENSP00000501833.1:p.Asn1087Ser
ENST00000675399.1:c.3323A>G	ENSP00000501932.1:p.Asn1108Ser
ENST00000676421.1:c.3332A>G	ENSP00000502322.1:p.Asn1111Ser
ENST00000263604.5:c.3476A>G	ENSP00000263604.4:p.Asn1159Ser
ENST00000371757.6:c.3512A>G	ENSP00000360822.2:p.Asn1171Ser
ENST00000460750.5:c.*3185A>G	ENSP00000418777.1:n.*3185A>G
ENST00000475008.1:n.2818A>G
ENST00000486577.6:c.3458A>G	ENSP00000417578.3:p.Asn1153Ser
ENST00000487664.5:c.3575A>G	ENSP00000417851.2:p.Asn1192Ser
ENST00000488444.6:c.3497A>G	ENSP00000419007.3:p.Asn1166Ser
ENST00000490355.6:c.3512A>G	ENSP00000418003.3:p.Asn1171Ser
ENST00000491806.6:c.3455A>G	ENSP00000419086.3:p.Asn1152Ser
ENST00000628528.2:c.3440A>G	ENSP00000486374.1:p.Asn1147Ser
ENST00000630792.2:c.3410A>G	ENSP00000486486.1:p.Asn1137Ser
ENST00000631073.2:c.3518A>G	ENSP00000486130.1:p.Asn1173Ser
NM_001272003.1:c.3440A>G	NP_001258932.1:p.Asn1147Ser
NM_020822.2:c.3512A>G	NP_065873.2:p.Asn1171Ser
XM_011518877.1:c.3710A>G	XP_011517179.1:p.Asn1237Ser
XM_011518878.1:c.3656A>G	XP_011517180.1:p.Asn1219Ser
XM_011518879.1:c.3647A>G	XP_011517181.1:p.Asn1216Ser
XM_011518880.1:c.3476A>G	XP_011517182.1:p.Asn1159Ser
XM_011518881.1:c.3065A>G	XP_011517183.1:p.Asn1022Ser
XM_011518877.3:c.3710A>G	XP_011517179.1:p.Asn1237Ser
XM_011518878.3:c.3656A>G	XP_011517180.1:p.Asn1219Ser
XM_011518879.3:c.3647A>G	XP_011517181.1:p.Asn1216Ser
XM_011518881.3:c.3065A>G	XP_011517183.1:p.Asn1022Ser
XM_017014931.1:c.3509A>G	XP_016870420.1:p.Asn1170Ser
XM_017014932.1:c.3332A>G	XP_016870421.1:p.Asn1111Ser
XM_017014933.1:c.3065A>G	XP_016870422.1:p.Asn1022Ser
XM_024447617.1:c.3065A>G	XP_024303385.1:p.Asn1022Ser
XM_024447618.1:c.3065A>G	XP_024303386.1:p.Asn1022Ser
NM_020822.3:c.3512A>G MANE Select	NP_065873.2:p.Asn1171Ser
NM_001272003.2:c.3440A>G	NP_001258932.1:p.Asn1147Ser