Canonical Allele Identifier: CA467698559
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138662258G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135770412G>A , CM000671.2:g.135770412G>A GRCh38
NC_000009.11:g.138662258G>A , CM000671.1:g.138662258G>A GRCh37
NC_000009.10:g.137802079G>A NCBI36
NG_033070.1:g.73228G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1734G>A MANE Select ENSP00000360822.2:p.Lys578=
ENST00000674572.1:c.1575G>A ENSP00000501742.1:p.Lys525=
ENST00000675090.1:c.1482G>A ENSP00000501833.1:p.Lys494=
ENST00000675399.1:c.1482G>A ENSP00000501932.1:p.Lys494=
ENST00000676421.1:c.1491G>A ENSP00000502322.1:p.Lys497=
ENST00000263604.5:c.1635G>A ENSP00000263604.4:p.Lys545=
ENST00000371757.6:c.1734G>A ENSP00000360822.2:p.Lys578=
ENST00000460750.5:c.*1344G>A ENSP00000418777.1:n.*1344G>A
ENST00000486577.6:c.1617G>A ENSP00000417578.3:p.Lys539=
ENST00000487664.5:c.1734G>A ENSP00000417851.2:p.Lys578=
ENST00000488444.6:c.1677G>A ENSP00000419007.3:p.Lys559=
ENST00000490355.6:c.1677G>A ENSP00000418003.3:p.Lys559=
ENST00000490363.3:n.1553G>A
ENST00000491806.6:c.1677G>A ENSP00000419086.3:p.Lys559=
ENST00000628528.2:c.1599G>A ENSP00000486374.1:p.Lys533=
ENST00000630792.2:c.1575G>A ENSP00000486486.1:p.Lys525=
ENST00000631073.2:c.1677G>A ENSP00000486130.1:p.Lys559=
NM_001272003.1:c.1599G>A NP_001258932.1:p.Lys533=
NM_020822.2:c.1734G>A NP_065873.2:p.Lys578=
XM_011518877.1:c.1869G>A XP_011517179.1:p.Lys623=
XM_011518878.1:c.1878G>A XP_011517180.1:p.Lys626=
XM_011518879.1:c.1869G>A XP_011517181.1:p.Lys623=
XM_011518880.1:c.1635G>A XP_011517182.1:p.Lys545=
XM_011518881.1:c.1224G>A XP_011517183.1:p.Lys408=
XM_011518877.3:c.1869G>A XP_011517179.1:p.Lys623=
XM_011518878.3:c.1878G>A XP_011517180.1:p.Lys626=
XM_011518879.3:c.1869G>A XP_011517181.1:p.Lys623=
XM_011518881.3:c.1224G>A XP_011517183.1:p.Lys408=
XM_017014931.1:c.1668G>A XP_016870420.1:p.Lys556=
XM_017014932.1:c.1491G>A XP_016870421.1:p.Lys497=
XM_017014933.1:c.1224G>A XP_016870422.1:p.Lys408=
XM_024447617.1:c.1224G>A XP_024303385.1:p.Lys408=
XM_024447618.1:c.1224G>A XP_024303386.1:p.Lys408=
NM_020822.3:c.1734G>A MANE Select NP_065873.2:p.Lys578=
NM_001272003.2:c.1599G>A NP_001258932.1:p.Lys533=