Canonical Allele Identifier: CA5327911

Gene: KCNT1

Linked Data

• dbSNP Id: rs748458127
• ExAC: 9:138683606 T / TG
• gnomAD v2: 9-138683606-T-TG
• gnomAD v3: 9-135791760-T-TG
• gnomAD v4: 9-135791760-T-TG
• MyVariant Identifiers: chr9:g.138683607_138683608insG (hg19) ; chr9:g.138683606_138683607insG (hg19) ; chr9:g.135791761_135791762insG (hg38) ; chr9:g.135791760_135791761insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135791767dup , CM000671.2:g.135791767dup	GRCh38
NC_000009.11:g.138683613dup , CM000671.1:g.138683613dup	GRCh37
NC_000009.10:g.137823434dup	NCBI36
NG_033070.1:g.94583dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3503-30dup MANE Select	ENSP00000360822.2:n.3503-30dup
ENST00000674572.1:c.3407-30dup	ENSP00000501742.1:n.3407-30dup
ENST00000675090.1:c.3251-30dup	ENSP00000501833.1:n.3251-30dup
ENST00000675399.1:c.3314-30dup	ENSP00000501932.1:n.3314-30dup
ENST00000676421.1:c.3323-30dup	ENSP00000502322.1:n.3323-30dup
ENST00000263604.5:c.3467-30dup	ENSP00000263604.4:n.3467-30dup
ENST00000371757.6:c.3503-30dup	ENSP00000360822.2:n.3503-30dup
ENST00000460750.5:c.*3176-30dup	ENSP00000418777.1:n.*3176-30dup
ENST00000475008.1:n.2779dup
ENST00000486577.6:c.3449-30dup	ENSP00000417578.3:n.3449-30dup
ENST00000487664.5:c.3566-30dup	ENSP00000417851.2:n.3566-30dup
ENST00000488444.6:c.3488-30dup	ENSP00000419007.3:n.3488-30dup
ENST00000490355.6:c.3503-30dup	ENSP00000418003.3:n.3503-30dup
ENST00000491806.6:c.3446-30dup	ENSP00000419086.3:n.3446-30dup
ENST00000628528.2:c.3431-30dup	ENSP00000486374.1:n.3431-30dup
ENST00000630792.2:c.3401-30dup	ENSP00000486486.1:n.3401-30dup
ENST00000631073.2:c.3509-30dup	ENSP00000486130.1:n.3509-30dup
NM_001272003.1:c.3431-30dup	NP_001258932.1:n.3431-30dup
NM_020822.2:c.3503-30dup	NP_065873.2:n.3503-30dup
XM_011518877.1:c.3701-30dup	XP_011517179.1:n.3701-30dup
XM_011518878.1:c.3647-30dup	XP_011517180.1:n.3647-30dup
XM_011518879.1:c.3638-30dup	XP_011517181.1:n.3638-30dup
XM_011518880.1:c.3467-30dup	XP_011517182.1:n.3467-30dup
XM_011518881.1:c.3056-30dup	XP_011517183.1:n.3056-30dup
XM_011518877.3:c.3701-30dup	XP_011517179.1:n.3701-30dup
XM_011518878.3:c.3647-30dup	XP_011517180.1:n.3647-30dup
XM_011518879.3:c.3638-30dup	XP_011517181.1:n.3638-30dup
XM_011518881.3:c.3056-30dup	XP_011517183.1:n.3056-30dup
XM_017014931.1:c.3500-30dup	XP_016870420.1:n.3500-30dup
XM_017014932.1:c.3323-30dup	XP_016870421.1:n.3323-30dup
XM_017014933.1:c.3056-30dup	XP_016870422.1:n.3056-30dup
XM_024447617.1:c.3056-30dup	XP_024303385.1:n.3056-30dup
XM_024447618.1:c.3056-30dup	XP_024303386.1:n.3056-30dup
XR_001746978.1:n.29dup
NM_020822.3:c.3503-30dup MANE Select	NP_065873.2:n.3503-30dup
NM_001272003.2:c.3431-30dup	NP_001258932.1:n.3431-30dup