Canonical Allele Identifier: CA10692458
Gene: KIAA0040 HGNC NCBI

Linked Data

dbSNP Id: rs1008459

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.175182047T>C , CM000663.2:g.175182047T>C GRCh38
NC_000001.10:g.175151183T>C , CM000663.1:g.175151183T>C GRCh37
NC_000001.9:g.173417806T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000423313.6:c.-383-4363A>G MANE Select ENSP00000462172.1:p.=
ENST00000423313.5:c.-383-4363A>G ENSP00000462172.1:p.=
ENST00000444639.5:c.-383-4363A>G ENSP00000463734.1:p.=
ENST00000545251.6:c.-310+10593A>G ENSP00000464040.1:p.=
ENST00000563563.2:n.218-4363A>G
ENST00000567124.5:n.137-4363A>G
NM_001162893.1:c.-383-4363A>G NP_001156365.1:p.=
NM_001162894.1:c.-383-4363A>G NP_001156366.1:p.=
NM_001162895.1:c.-310+10593A>G NP_001156367.1:p.=
NM_014656.2:c.-383-4363A>G NP_055471.2:p.=
XM_005245628.3:c.-310+10813A>G XP_005245685.1:p.=
XM_011510182.1:c.-766-4363A>G XP_011508484.1:p.=
XM_011510183.1:c.-841-4363A>G XP_011508485.1:p.=
XM_011510184.1:c.-458-4363A>G XP_011508486.1:p.=
NM_001319230.1:c.-310+10813A>G NP_001306159.1:p.=
NM_001319231.1:c.-458-4363A>G NP_001306160.1:p.=
XM_017002911.2:c.-310+10593A>G XP_016858400.1:p.=
NM_014656.3:c.-383-4363A>G MANE Select NP_055471.2:p.=
NM_001162893.2:c.-383-4363A>G NP_001156365.1:p.=
NM_001162894.2:c.-383-4363A>G NP_001156366.1:p.=
NM_001162895.2:c.-310+10593A>G NP_001156367.1:p.=
NM_001319230.2:c.-310+10813A>G NP_001306159.1:p.=
NM_001319231.2:c.-458-4363A>G NP_001306160.1:p.=