Canonical Allele Identifier: CA5327932

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 513847
• ClinVar RCV Id: RCV001400524 ; RCV001707805 ; RCV002270830 ; RCV002270829
• dbSNP Id: rs761504279
• ExAC: 9:138683644 C / T
• gnomAD v2: 9-138683644-C-T
• gnomAD v3: 9-135791798-C-T
• gnomAD v4: 9-135791798-C-T
• COSMIC: COSM3905570 ; COSM3905571
• MyVariant Identifiers: chr9:g.138683644C>T (hg19) ; chr9:g.135791798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791798C>T , CM000671.2:g.135791798C>T	GRCh38
NC_000009.11:g.138683644C>T , CM000671.1:g.138683644C>T	GRCh37
NC_000009.10:g.137823465C>T	NCBI36
NG_033070.1:g.94614C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.3504C>T MANE Select	ENSP00000360822.2:p.Asp1168=
ENST00000674572.1:c.3408C>T	ENSP00000501742.1:p.Asp1136=
ENST00000675090.1:c.3252C>T	ENSP00000501833.1:p.Asp1084=
ENST00000675399.1:c.3315C>T	ENSP00000501932.1:p.Asp1105=
ENST00000676421.1:c.3324C>T	ENSP00000502322.1:p.Asp1108=
ENST00000263604.5:c.3468C>T	ENSP00000263604.4:p.Asp1156=
ENST00000371757.6:c.3504C>T	ENSP00000360822.2:p.Asp1168=
ENST00000460750.5:c.*3177C>T	ENSP00000418777.1:n.*3177C>T
ENST00000475008.1:n.2810C>T
ENST00000486577.6:c.3450C>T	ENSP00000417578.3:p.Asp1150=
ENST00000487664.5:c.3567C>T	ENSP00000417851.2:p.Asp1189=
ENST00000488444.6:c.3489C>T	ENSP00000419007.3:p.Asp1163=
ENST00000490355.6:c.3504C>T	ENSP00000418003.3:p.Asp1168=
ENST00000491806.6:c.3447C>T	ENSP00000419086.3:p.Asp1149=
ENST00000628528.2:c.3432C>T	ENSP00000486374.1:p.Asp1144=
ENST00000630792.2:c.3402C>T	ENSP00000486486.1:p.Asp1134=
ENST00000631073.2:c.3510C>T	ENSP00000486130.1:p.Asp1170=
NM_001272003.1:c.3432C>T	NP_001258932.1:p.Asp1144=
NM_020822.2:c.3504C>T	NP_065873.2:p.Asp1168=
XM_011518877.1:c.3702C>T	XP_011517179.1:p.Asp1234=
XM_011518878.1:c.3648C>T	XP_011517180.1:p.Asp1216=
XM_011518879.1:c.3639C>T	XP_011517181.1:p.Asp1213=
XM_011518880.1:c.3468C>T	XP_011517182.1:p.Asp1156=
XM_011518881.1:c.3057C>T	XP_011517183.1:p.Asp1019=
XM_011518877.3:c.3702C>T	XP_011517179.1:p.Asp1234=
XM_011518878.3:c.3648C>T	XP_011517180.1:p.Asp1216=
XM_011518879.3:c.3639C>T	XP_011517181.1:p.Asp1213=
XM_011518881.3:c.3057C>T	XP_011517183.1:p.Asp1019=
XM_017014931.1:c.3501C>T	XP_016870420.1:p.Asp1167=
XM_017014932.1:c.3324C>T	XP_016870421.1:p.Asp1108=
XM_017014933.1:c.3057C>T	XP_016870422.1:p.Asp1019=
XM_024447617.1:c.3057C>T	XP_024303385.1:p.Asp1019=
XM_024447618.1:c.3057C>T	XP_024303386.1:p.Asp1019=
NM_020822.3:c.3504C>T MANE Select	NP_065873.2:p.Asp1168=
NM_001272003.2:c.3432C>T	NP_001258932.1:p.Asp1144=