Canonical Allele Identifier: CA10603124
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280499
ClinVar RCV Id: RCV001253472 RCV002519055
dbSNP Id: rs886041691
gnomAD v4: 9-135769982-A-G
MyVariant Identifiers: chr9:g.138661828A>G (hg19) chr9:g.135769982A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135769982A>G , CM000671.2:g.135769982A>G GRCh38
NC_000009.11:g.138661828A>G , CM000671.1:g.138661828A>G GRCh37
NC_000009.10:g.137801649A>G NCBI36
NG_033070.1:g.72798A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1546A>G MANE Select ENSP00000360822.2:p.Met516Val
ENST00000674572.1:c.1387A>G ENSP00000501742.1:p.Met463Val
ENST00000675090.1:c.1294A>G ENSP00000501833.1:p.Met432Val
ENST00000675399.1:c.1294A>G ENSP00000501932.1:p.Met432Val
ENST00000676421.1:c.1303A>G ENSP00000502322.1:p.Met435Val
ENST00000263604.5:c.1447A>G ENSP00000263604.4:p.Met483Val
ENST00000371757.6:c.1546A>G ENSP00000360822.2:p.Met516Val
ENST00000460750.5:c.*1156A>G ENSP00000418777.1:n.*1156A>G
ENST00000486577.6:c.1429A>G ENSP00000417578.3:p.Met477Val
ENST00000487664.5:c.1546A>G ENSP00000417851.2:p.Met516Val
ENST00000488444.6:c.1489A>G ENSP00000419007.3:p.Met497Val
ENST00000490355.6:c.1489A>G ENSP00000418003.3:p.Met497Val
ENST00000490363.3:n.1365A>G
ENST00000491806.6:c.1489A>G ENSP00000419086.3:p.Met497Val
ENST00000628528.2:c.1411A>G ENSP00000486374.1:p.Met471Val
ENST00000630792.2:c.1387A>G ENSP00000486486.1:p.Met463Val
ENST00000631073.2:c.1489A>G ENSP00000486130.1:p.Met497Val
NM_001272003.1:c.1411A>G NP_001258932.1:p.Met471Val
NM_020822.2:c.1546A>G NP_065873.2:p.Met516Val
XM_011518877.1:c.1681A>G XP_011517179.1:p.Met561Val
XM_011518878.1:c.1690A>G XP_011517180.1:p.Met564Val
XM_011518879.1:c.1681A>G XP_011517181.1:p.Met561Val
XM_011518880.1:c.1447A>G XP_011517182.1:p.Met483Val
XM_011518881.1:c.1036A>G XP_011517183.1:p.Met346Val
XM_011518877.3:c.1681A>G XP_011517179.1:p.Met561Val
XM_011518878.3:c.1690A>G XP_011517180.1:p.Met564Val
XM_011518879.3:c.1681A>G XP_011517181.1:p.Met561Val
XM_011518881.3:c.1036A>G XP_011517183.1:p.Met346Val
XM_017014931.1:c.1480A>G XP_016870420.1:p.Met494Val
XM_017014932.1:c.1303A>G XP_016870421.1:p.Met435Val
XM_017014933.1:c.1036A>G XP_016870422.1:p.Met346Val
XM_024447617.1:c.1036A>G XP_024303385.1:p.Met346Val
XM_024447618.1:c.1036A>G XP_024303386.1:p.Met346Val
NM_020822.3:c.1546A>G MANE Select NP_065873.2:p.Met516Val
NM_001272003.2:c.1411A>G NP_001258932.1:p.Met471Val
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