Canonical Allele Identifier: CA5326966

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 540559
• ClinVar RCV Id: RCV000650626 ; RCV001584500 ; RCV002270926 ; RCV002270927
• dbSNP Id: rs113333501
• ExAC: 9:138661854 G / A
• gnomAD v2: 9-138661854-G-A
• gnomAD v4: 9-135770008-G-A
• MyVariant Identifiers: chr9:g.138661854G>A (hg19) ; chr9:g.135770008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770008G>A , CM000671.2:g.135770008G>A	GRCh38
NC_000009.11:g.138661854G>A , CM000671.1:g.138661854G>A	GRCh37
NC_000009.10:g.137801675G>A	NCBI36
NG_033070.1:g.72824G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1572G>A MANE Select	ENSP00000360822.2:p.Pro524=
ENST00000674572.1:c.1413G>A	ENSP00000501742.1:p.Pro471=
ENST00000675090.1:c.1320G>A	ENSP00000501833.1:p.Pro440=
ENST00000675399.1:c.1320G>A	ENSP00000501932.1:p.Pro440=
ENST00000676421.1:c.1329G>A	ENSP00000502322.1:p.Pro443=
ENST00000263604.5:c.1473G>A	ENSP00000263604.4:p.Pro491=
ENST00000371757.6:c.1572G>A	ENSP00000360822.2:p.Pro524=
ENST00000460750.5:c.*1182G>A	ENSP00000418777.1:n.*1182G>A
ENST00000486577.6:c.1455G>A	ENSP00000417578.3:p.Pro485=
ENST00000487664.5:c.1572G>A	ENSP00000417851.2:p.Pro524=
ENST00000488444.6:c.1515G>A	ENSP00000419007.3:p.Pro505=
ENST00000490355.6:c.1515G>A	ENSP00000418003.3:p.Pro505=
ENST00000490363.3:n.1391G>A
ENST00000491806.6:c.1515G>A	ENSP00000419086.3:p.Pro505=
ENST00000628528.2:c.1437G>A	ENSP00000486374.1:p.Pro479=
ENST00000630792.2:c.1413G>A	ENSP00000486486.1:p.Pro471=
ENST00000631073.2:c.1515G>A	ENSP00000486130.1:p.Pro505=
NM_001272003.1:c.1437G>A	NP_001258932.1:p.Pro479=
NM_020822.2:c.1572G>A	NP_065873.2:p.Pro524=
XM_011518877.1:c.1707G>A	XP_011517179.1:p.Pro569=
XM_011518878.1:c.1716G>A	XP_011517180.1:p.Pro572=
XM_011518879.1:c.1707G>A	XP_011517181.1:p.Pro569=
XM_011518880.1:c.1473G>A	XP_011517182.1:p.Pro491=
XM_011518881.1:c.1062G>A	XP_011517183.1:p.Pro354=
XM_011518877.3:c.1707G>A	XP_011517179.1:p.Pro569=
XM_011518878.3:c.1716G>A	XP_011517180.1:p.Pro572=
XM_011518879.3:c.1707G>A	XP_011517181.1:p.Pro569=
XM_011518881.3:c.1062G>A	XP_011517183.1:p.Pro354=
XM_017014931.1:c.1506G>A	XP_016870420.1:p.Pro502=
XM_017014932.1:c.1329G>A	XP_016870421.1:p.Pro443=
XM_017014933.1:c.1062G>A	XP_016870422.1:p.Pro354=
XM_024447617.1:c.1062G>A	XP_024303385.1:p.Pro354=
XM_024447618.1:c.1062G>A	XP_024303386.1:p.Pro354=
NM_020822.3:c.1572G>A MANE Select	NP_065873.2:p.Pro524=
NM_001272003.2:c.1437G>A	NP_001258932.1:p.Pro479=