Canonical Allele Identifier: CA467698534
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138662234G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770388G>A , CM000671.2:g.135770388G>A GRCh38
NC_000009.11:g.138662234G>A , CM000671.1:g.138662234G>A GRCh37
NC_000009.10:g.137802055G>A NCBI36
NG_033070.1:g.73204G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1710G>A MANE Select ENSP00000360822.2:p.Lys570=
ENST00000674572.1:c.1551G>A ENSP00000501742.1:p.Lys517=
ENST00000675090.1:c.1458G>A ENSP00000501833.1:p.Lys486=
ENST00000675399.1:c.1458G>A ENSP00000501932.1:p.Lys486=
ENST00000676421.1:c.1467G>A ENSP00000502322.1:p.Lys489=
ENST00000263604.5:c.1611G>A ENSP00000263604.4:p.Lys537=
ENST00000371757.6:c.1710G>A ENSP00000360822.2:p.Lys570=
ENST00000460750.5:c.*1320G>A ENSP00000418777.1:n.*1320G>A
ENST00000486577.6:c.1593G>A ENSP00000417578.3:p.Lys531=
ENST00000487664.5:c.1710G>A ENSP00000417851.2:p.Lys570=
ENST00000488444.6:c.1653G>A ENSP00000419007.3:p.Lys551=
ENST00000490355.6:c.1653G>A ENSP00000418003.3:p.Lys551=
ENST00000490363.3:n.1529G>A
ENST00000491806.6:c.1653G>A ENSP00000419086.3:p.Lys551=
ENST00000628528.2:c.1575G>A ENSP00000486374.1:p.Lys525=
ENST00000630792.2:c.1551G>A ENSP00000486486.1:p.Lys517=
ENST00000631073.2:c.1653G>A ENSP00000486130.1:p.Lys551=
NM_001272003.1:c.1575G>A NP_001258932.1:p.Lys525=
NM_020822.2:c.1710G>A NP_065873.2:p.Lys570=
XM_011518877.1:c.1845G>A XP_011517179.1:p.Lys615=
XM_011518878.1:c.1854G>A XP_011517180.1:p.Lys618=
XM_011518879.1:c.1845G>A XP_011517181.1:p.Lys615=
XM_011518880.1:c.1611G>A XP_011517182.1:p.Lys537=
XM_011518881.1:c.1200G>A XP_011517183.1:p.Lys400=
XM_011518877.3:c.1845G>A XP_011517179.1:p.Lys615=
XM_011518878.3:c.1854G>A XP_011517180.1:p.Lys618=
XM_011518879.3:c.1845G>A XP_011517181.1:p.Lys615=
XM_011518881.3:c.1200G>A XP_011517183.1:p.Lys400=
XM_017014931.1:c.1644G>A XP_016870420.1:p.Lys548=
XM_017014932.1:c.1467G>A XP_016870421.1:p.Lys489=
XM_017014933.1:c.1200G>A XP_016870422.1:p.Lys400=
XM_024447617.1:c.1200G>A XP_024303385.1:p.Lys400=
XM_024447618.1:c.1200G>A XP_024303386.1:p.Lys400=
NM_020822.3:c.1710G>A MANE Select NP_065873.2:p.Lys570=
NM_001272003.2:c.1575G>A NP_001258932.1:p.Lys525=