Canonical Allele Identifier: CA5327589

Gene: KCNT1

Linked Data

• dbSNP Id: rs755073132
• ExAC: 9:138676602 T / C
• gnomAD v2: 9-138676602-T-C
• gnomAD v4: 9-135784756-T-C
• MyVariant Identifiers: chr9:g.138676602T>C (hg19) ; chr9:g.135784756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135784756T>C , CM000671.2:g.135784756T>C	GRCh38
NC_000009.11:g.138676602T>C , CM000671.1:g.138676602T>C	GRCh37
NC_000009.10:g.137816423T>C	NCBI36
NG_033070.1:g.87572T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371757.7:c.3028-5T>C MANE Select	ENSP00000360822.2:n.3028-5T>C
ENST00000674572.1:c.2869-5T>C	ENSP00000501742.1:n.2869-5T>C
ENST00000675090.1:c.2776-5T>C	ENSP00000501833.1:n.2776-5T>C
ENST00000675399.1:c.2776-5T>C	ENSP00000501932.1:n.2776-5T>C
ENST00000676421.1:c.2785-5T>C	ENSP00000502322.1:n.2785-5T>C
ENST00000263604.5:c.2929-5T>C	ENSP00000263604.4:n.2929-5T>C
ENST00000371757.6:c.3028-5T>C	ENSP00000360822.2:n.3028-5T>C
ENST00000460750.5:c.*2638-5T>C	ENSP00000418777.1:n.*2638-5T>C
ENST00000486577.6:c.2911-5T>C	ENSP00000417578.3:n.2911-5T>C
ENST00000487664.5:c.3028-5T>C	ENSP00000417851.2:n.3028-5T>C
ENST00000488444.6:c.2971-5T>C	ENSP00000419007.3:n.2971-5T>C
ENST00000490355.6:c.2965-5T>C	ENSP00000418003.3:n.2965-5T>C
ENST00000490363.3:n.2847-5T>C
ENST00000491806.6:c.2971-5T>C	ENSP00000419086.3:n.2971-5T>C
ENST00000628528.2:c.2893-5T>C	ENSP00000486374.1:n.2893-5T>C
ENST00000630792.2:c.2863-5T>C	ENSP00000486486.1:n.2863-5T>C
ENST00000631073.2:c.2971-5T>C	ENSP00000486130.1:n.2971-5T>C
ENST00000631193.1:c.894-5T>C	ENSP00000486830.1:n.894-5T>C
NM_001272003.1:c.2893-5T>C	NP_001258932.1:n.2893-5T>C
NM_020822.2:c.3028-5T>C	NP_065873.2:n.3028-5T>C
XM_011518877.1:c.3163-5T>C	XP_011517179.1:n.3163-5T>C
XM_011518878.1:c.3172-5T>C	XP_011517180.1:n.3172-5T>C
XM_011518879.1:c.3163-5T>C	XP_011517181.1:n.3163-5T>C
XM_011518880.1:c.2929-5T>C	XP_011517182.1:n.2929-5T>C
XM_011518881.1:c.2518-5T>C	XP_011517183.1:n.2518-5T>C
XM_011518877.3:c.3163-5T>C	XP_011517179.1:n.3163-5T>C
XM_011518878.3:c.3172-5T>C	XP_011517180.1:n.3172-5T>C
XM_011518879.3:c.3163-5T>C	XP_011517181.1:n.3163-5T>C
XM_011518881.3:c.2518-5T>C	XP_011517183.1:n.2518-5T>C
XM_017014931.1:c.2962-5T>C	XP_016870420.1:n.2962-5T>C
XM_017014932.1:c.2785-5T>C	XP_016870421.1:n.2785-5T>C
XM_017014933.1:c.2518-5T>C	XP_016870422.1:n.2518-5T>C
XM_024447617.1:c.2518-5T>C	XP_024303385.1:n.2518-5T>C
XM_024447618.1:c.2518-5T>C	XP_024303386.1:n.2518-5T>C
NM_020822.3:c.3028-5T>C MANE Select	NP_065873.2:n.3028-5T>C
NM_001272003.2:c.2893-5T>C	NP_001258932.1:n.2893-5T>C