Canonical Allele Identifier: CA467698021
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138656927C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135765081C>T , CM000671.2:g.135765081C>T GRCh38
NC_000009.11:g.138656927C>T , CM000671.1:g.138656927C>T GRCh37
NC_000009.10:g.137796748C>T NCBI36
NG_033070.1:g.67897C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.1086C>T MANE Select ENSP00000360822.2:p.Asn362=
ENST00000674572.1:c.927C>T ENSP00000501742.1:p.Asn309=
ENST00000675090.1:c.834C>T ENSP00000501833.1:p.Asn278=
ENST00000675399.1:c.834C>T ENSP00000501932.1:p.Asn278=
ENST00000676421.1:c.843C>T ENSP00000502322.1:p.Asn281=
ENST00000263604.5:c.987C>T ENSP00000263604.4:p.Asn329=
ENST00000371757.6:c.1086C>T ENSP00000360822.2:p.Asn362=
ENST00000460750.5:c.*696C>T ENSP00000418777.1:n.*696C>T
ENST00000486577.6:c.969C>T ENSP00000417578.3:p.Asn323=
ENST00000487664.5:c.1086C>T ENSP00000417851.2:p.Asn362=
ENST00000488444.6:c.1029C>T ENSP00000419007.3:p.Asn343=
ENST00000490355.6:c.1029C>T ENSP00000418003.3:p.Asn343=
ENST00000490363.3:n.905C>T
ENST00000491806.6:c.1029C>T ENSP00000419086.3:p.Asn343=
ENST00000628528.2:c.951C>T ENSP00000486374.1:p.Asn317=
ENST00000630792.2:c.927C>T ENSP00000486486.1:p.Asn309=
ENST00000631073.2:c.1029C>T ENSP00000486130.1:p.Asn343=
NM_001272003.1:c.951C>T NP_001258932.1:p.Asn317=
NM_020822.2:c.1086C>T NP_065873.2:p.Asn362=
XM_011518877.1:c.1221C>T XP_011517179.1:p.Asn407=
XM_011518878.1:c.1230C>T XP_011517180.1:p.Asn410=
XM_011518879.1:c.1221C>T XP_011517181.1:p.Asn407=
XM_011518880.1:c.987C>T XP_011517182.1:p.Asn329=
XM_011518881.1:c.576C>T XP_011517183.1:p.Asn192=
XM_011518877.3:c.1221C>T XP_011517179.1:p.Asn407=
XM_011518878.3:c.1230C>T XP_011517180.1:p.Asn410=
XM_011518879.3:c.1221C>T XP_011517181.1:p.Asn407=
XM_011518881.3:c.576C>T XP_011517183.1:p.Asn192=
XM_017014931.1:c.1020C>T XP_016870420.1:p.Asn340=
XM_017014932.1:c.843C>T XP_016870421.1:p.Asn281=
XM_017014933.1:c.576C>T XP_016870422.1:p.Asn192=
XM_024447617.1:c.576C>T XP_024303385.1:p.Asn192=
XM_024447618.1:c.576C>T XP_024303386.1:p.Asn192=
NM_020822.3:c.1086C>T MANE Select NP_065873.2:p.Asn362=
NM_001272003.2:c.951C>T NP_001258932.1:p.Asn317=