Canonical Allele Identifier: CA467698738
Gene: KCNT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.138667186C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135775340C>G , CM000671.2:g.135775340C>G GRCh38
NC_000009.11:g.138667186C>G , CM000671.1:g.138667186C>G GRCh37
NC_000009.10:g.137807007C>G NCBI36
NG_033070.1:g.78156C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371757.7:c.2274C>G MANE Select ENSP00000360822.2:p.Pro758=
ENST00000674572.1:c.2115C>G ENSP00000501742.1:p.Pro705=
ENST00000675090.1:c.2022C>G ENSP00000501833.1:p.Pro674=
ENST00000675399.1:c.2022C>G ENSP00000501932.1:p.Pro674=
ENST00000676421.1:c.2031C>G ENSP00000502322.1:p.Pro677=
ENST00000263604.5:c.2175C>G ENSP00000263604.4:p.Pro725=
ENST00000371757.6:c.2274C>G ENSP00000360822.2:p.Pro758=
ENST00000460750.5:c.*1884C>G ENSP00000418777.1:n.*1884C>G
ENST00000486577.6:c.2157C>G ENSP00000417578.3:p.Pro719=
ENST00000487664.5:c.2274C>G ENSP00000417851.2:p.Pro758=
ENST00000488444.6:c.2217C>G ENSP00000419007.3:p.Pro739=
ENST00000490355.6:c.2211C>G ENSP00000418003.3:p.Pro737=
ENST00000490363.3:n.2093C>G
ENST00000491806.6:c.2217C>G ENSP00000419086.3:p.Pro739=
ENST00000628528.2:c.2139C>G ENSP00000486374.1:p.Pro713=
ENST00000630792.2:c.2109C>G ENSP00000486486.1:p.Pro703=
ENST00000631073.2:c.2217C>G ENSP00000486130.1:p.Pro739=
ENST00000631193.1:c.123C>G ENSP00000486830.1:p.Pro41=
NM_001272003.1:c.2139C>G NP_001258932.1:p.Pro713=
NM_020822.2:c.2274C>G NP_065873.2:p.Pro758=
XM_011518877.1:c.2409C>G XP_011517179.1:p.Pro803=
XM_011518878.1:c.2418C>G XP_011517180.1:p.Pro806=
XM_011518879.1:c.2409C>G XP_011517181.1:p.Pro803=
XM_011518880.1:c.2175C>G XP_011517182.1:p.Pro725=
XM_011518881.1:c.1764C>G XP_011517183.1:p.Pro588=
XM_011518877.3:c.2409C>G XP_011517179.1:p.Pro803=
XM_011518878.3:c.2418C>G XP_011517180.1:p.Pro806=
XM_011518879.3:c.2409C>G XP_011517181.1:p.Pro803=
XM_011518881.3:c.1764C>G XP_011517183.1:p.Pro588=
XM_017014931.1:c.2208C>G XP_016870420.1:p.Pro736=
XM_017014932.1:c.2031C>G XP_016870421.1:p.Pro677=
XM_017014933.1:c.1764C>G XP_016870422.1:p.Pro588=
XM_024447617.1:c.1764C>G XP_024303385.1:p.Pro588=
XM_024447618.1:c.1764C>G XP_024303386.1:p.Pro588=
NM_020822.3:c.2274C>G MANE Select NP_065873.2:p.Pro758=
NM_001272003.2:c.2139C>G NP_001258932.1:p.Pro713=