Canonical Allele Identifier: CA467698398
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138661842C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135769996C>T , CM000671.2:g.135769996C>T GRCh38
NC_000009.11:g.138661842C>T , CM000671.1:g.138661842C>T GRCh37
NC_000009.10:g.137801663C>T NCBI36
NG_033070.1:g.72812C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371757.7:c.1560C>T MANE Select ENSP00000360822.2:p.Asn520=
ENST00000674572.1:c.1401C>T ENSP00000501742.1:p.Asn467=
ENST00000675090.1:c.1308C>T ENSP00000501833.1:p.Asn436=
ENST00000675399.1:c.1308C>T ENSP00000501932.1:p.Asn436=
ENST00000676421.1:c.1317C>T ENSP00000502322.1:p.Asn439=
ENST00000263604.5:c.1461C>T ENSP00000263604.4:p.Asn487=
ENST00000371757.6:c.1560C>T ENSP00000360822.2:p.Asn520=
ENST00000460750.5:c.*1170C>T ENSP00000418777.1:n.*1170C>T
ENST00000486577.6:c.1443C>T ENSP00000417578.3:p.Asn481=
ENST00000487664.5:c.1560C>T ENSP00000417851.2:p.Asn520=
ENST00000488444.6:c.1503C>T ENSP00000419007.3:p.Asn501=
ENST00000490355.6:c.1503C>T ENSP00000418003.3:p.Asn501=
ENST00000490363.3:n.1379C>T
ENST00000491806.6:c.1503C>T ENSP00000419086.3:p.Asn501=
ENST00000628528.2:c.1425C>T ENSP00000486374.1:p.Asn475=
ENST00000630792.2:c.1401C>T ENSP00000486486.1:p.Asn467=
ENST00000631073.2:c.1503C>T ENSP00000486130.1:p.Asn501=
NM_001272003.1:c.1425C>T NP_001258932.1:p.Asn475=
NM_020822.2:c.1560C>T NP_065873.2:p.Asn520=
XM_011518877.1:c.1695C>T XP_011517179.1:p.Asn565=
XM_011518878.1:c.1704C>T XP_011517180.1:p.Asn568=
XM_011518879.1:c.1695C>T XP_011517181.1:p.Asn565=
XM_011518880.1:c.1461C>T XP_011517182.1:p.Asn487=
XM_011518881.1:c.1050C>T XP_011517183.1:p.Asn350=
XM_011518877.3:c.1695C>T XP_011517179.1:p.Asn565=
XM_011518878.3:c.1704C>T XP_011517180.1:p.Asn568=
XM_011518879.3:c.1695C>T XP_011517181.1:p.Asn565=
XM_011518881.3:c.1050C>T XP_011517183.1:p.Asn350=
XM_017014931.1:c.1494C>T XP_016870420.1:p.Asn498=
XM_017014932.1:c.1317C>T XP_016870421.1:p.Asn439=
XM_017014933.1:c.1050C>T XP_016870422.1:p.Asn350=
XM_024447617.1:c.1050C>T XP_024303385.1:p.Asn350=
XM_024447618.1:c.1050C>T XP_024303386.1:p.Asn350=
NM_020822.3:c.1560C>T MANE Select NP_065873.2:p.Asn520=
NM_001272003.2:c.1425C>T NP_001258932.1:p.Asn475=