Canonical Allele Identifier: CA1883843550
Gene: KCNT1 HGNC NCBI

Linked Data

dbSNP Id: rs1831074390

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135750249G>A , CM000671.2:g.135750249G>A GRCh38
NC_000009.11:g.138642095G>A , CM000671.1:g.138642095G>A GRCh37
NC_000009.10:g.137781916G>A NCBI36
NG_033070.1:g.53065G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.334+72G>A MANE Select ENSP00000360822.2:n.334+72G>A
ENST00000638123.1:n.69+72G>A
ENST00000674572.1:c.175+72G>A ENSP00000501742.1:n.175+72G>A
ENST00000675090.1:c.82+72G>A ENSP00000501833.1:n.82+72G>A
ENST00000675399.1:c.82+72G>A ENSP00000501932.1:n.82+72G>A
ENST00000676421.1:c.82+72G>A ENSP00000502322.1:n.82+72G>A
ENST00000263604.5:c.235+72G>A ENSP00000263604.4:n.235+72G>A
ENST00000371757.6:c.334+72G>A ENSP00000360822.2:n.334+72G>A
ENST00000460750.5:c.334+72G>A ENSP00000418777.1:n.334+72G>A
ENST00000473941.5:c.175+72G>A ENSP00000420764.1:n.175+72G>A
ENST00000486577.6:c.217+72G>A ENSP00000417578.3:n.217+72G>A
ENST00000487664.5:c.334+72G>A ENSP00000417851.2:n.334+72G>A
ENST00000488444.6:c.277+72G>A ENSP00000419007.3:n.277+72G>A
ENST00000490355.6:c.277+72G>A ENSP00000418003.3:n.277+72G>A
ENST00000491806.6:c.277+72G>A ENSP00000419086.3:n.277+72G>A
ENST00000628528.2:c.190+72G>A ENSP00000486374.1:n.190+72G>A
ENST00000630792.2:c.175+72G>A ENSP00000486486.1:n.175+72G>A
ENST00000631073.2:c.277+72G>A ENSP00000486130.1:n.277+72G>A
NM_001272003.1:c.190+72G>A NP_001258932.1:n.190+72G>A
NM_020822.2:c.334+72G>A NP_065873.2:n.334+72G>A
XM_011518877.1:c.469+72G>A XP_011517179.1:n.469+72G>A
XM_011518878.1:c.469+72G>A XP_011517180.1:n.469+72G>A
XM_011518879.1:c.469+72G>A XP_011517181.1:n.469+72G>A
XM_011518880.1:c.235+72G>A XP_011517182.1:n.235+72G>A
XM_011518877.3:c.469+72G>A XP_011517179.1:n.469+72G>A
XM_011518878.3:c.469+72G>A XP_011517180.1:n.469+72G>A
XM_011518879.3:c.469+72G>A XP_011517181.1:n.469+72G>A
XM_017014931.1:c.359+72G>A XP_016870420.1:n.359+72G>A
XM_017014932.1:c.82+72G>A XP_016870421.1:n.82+72G>A
XM_017014933.1:c.-86+72G>A XP_016870422.1:n.-86+72G>A
XM_024447617.1:c.-186+72G>A XP_024303385.1:n.-186+72G>A
XM_024447618.1:c.-186+72G>A XP_024303386.1:n.-186+72G>A
NM_020822.3:c.334+72G>A MANE Select NP_065873.2:n.334+72G>A
NM_001272003.2:c.190+72G>A NP_001258932.1:n.190+72G>A