Canonical Allele Identifier: CA5326958

Gene: KCNT1

Linked Data

• ClinVar Variation Id: 2195852
• ClinVar RCV Id: RCV002628994
• dbSNP Id: rs562187920
• ExAC: 9:138661800 G / A
• gnomAD v2: 9-138661800-G-A
• gnomAD v3: 9-135769954-G-A
• gnomAD v4: 9-135769954-G-A
• MyVariant Identifiers: chr9:g.138661800G>A (hg19) ; chr9:g.135769954G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135769954G>A , CM000671.2:g.135769954G>A	GRCh38
NC_000009.11:g.138661800G>A , CM000671.1:g.138661800G>A	GRCh37
NC_000009.10:g.137801621G>A	NCBI36
NG_033070.1:g.72770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1518G>A MANE Select	ENSP00000360822.2:p.Val506=
ENST00000674572.1:c.1359G>A	ENSP00000501742.1:p.Val453=
ENST00000675090.1:c.1266G>A	ENSP00000501833.1:p.Val422=
ENST00000675399.1:c.1266G>A	ENSP00000501932.1:p.Val422=
ENST00000676421.1:c.1275G>A	ENSP00000502322.1:p.Val425=
ENST00000263604.5:c.1419G>A	ENSP00000263604.4:p.Val473=
ENST00000371757.6:c.1518G>A	ENSP00000360822.2:p.Val506=
ENST00000460750.5:c.*1128G>A	ENSP00000418777.1:n.*1128G>A
ENST00000486577.6:c.1401G>A	ENSP00000417578.3:p.Val467=
ENST00000487664.5:c.1518G>A	ENSP00000417851.2:p.Val506=
ENST00000488444.6:c.1461G>A	ENSP00000419007.3:p.Val487=
ENST00000490355.6:c.1461G>A	ENSP00000418003.3:p.Val487=
ENST00000490363.3:n.1337G>A
ENST00000491806.6:c.1461G>A	ENSP00000419086.3:p.Val487=
ENST00000628528.2:c.1383G>A	ENSP00000486374.1:p.Val461=
ENST00000630792.2:c.1359G>A	ENSP00000486486.1:p.Val453=
ENST00000631073.2:c.1461G>A	ENSP00000486130.1:p.Val487=
NM_001272003.1:c.1383G>A	NP_001258932.1:p.Val461=
NM_020822.2:c.1518G>A	NP_065873.2:p.Val506=
XM_011518877.1:c.1653G>A	XP_011517179.1:p.Val551=
XM_011518878.1:c.1662G>A	XP_011517180.1:p.Val554=
XM_011518879.1:c.1653G>A	XP_011517181.1:p.Val551=
XM_011518880.1:c.1419G>A	XP_011517182.1:p.Val473=
XM_011518881.1:c.1008G>A	XP_011517183.1:p.Val336=
XM_011518877.3:c.1653G>A	XP_011517179.1:p.Val551=
XM_011518878.3:c.1662G>A	XP_011517180.1:p.Val554=
XM_011518879.3:c.1653G>A	XP_011517181.1:p.Val551=
XM_011518881.3:c.1008G>A	XP_011517183.1:p.Val336=
XM_017014931.1:c.1452G>A	XP_016870420.1:p.Val484=
XM_017014932.1:c.1275G>A	XP_016870421.1:p.Val425=
XM_017014933.1:c.1008G>A	XP_016870422.1:p.Val336=
XM_024447617.1:c.1008G>A	XP_024303385.1:p.Val336=
XM_024447618.1:c.1008G>A	XP_024303386.1:p.Val336=
NM_020822.3:c.1518G>A MANE Select	NP_065873.2:p.Val506=
NM_001272003.2:c.1383G>A	NP_001258932.1:p.Val461=