Canonical Allele Identifier: CA1208485281
Gene: KIAA0040 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.175181983C= , CM000663.2:g.175181983C= GRCh38
NC_000001.10:g.175151119C= , CM000663.1:g.175151119C= GRCh37
NC_000001.9:g.173417742C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000423313.6:c.-383-4299G= MANE Select ENSP00000462172.1:n.-383-4299G=
ENST00000423313.5:c.-383-4299G= ENSP00000462172.1:n.-383-4299G=
ENST00000444639.5:c.-383-4299G= ENSP00000463734.1:n.-383-4299G=
ENST00000545251.6:c.-310+10657G= ENSP00000464040.1:n.-310+10657G=
ENST00000563563.2:n.218-4299G=
ENST00000567124.5:n.137-4299G=
NM_001162893.1:c.-383-4299G= NP_001156365.1:n.-383-4299G=
NM_001162894.1:c.-383-4299G= NP_001156366.1:n.-383-4299G=
NM_001162895.1:c.-310+10657G= NP_001156367.1:n.-310+10657G=
NM_014656.2:c.-383-4299G= NP_055471.2:n.-383-4299G=
XM_005245628.3:c.-310+10877G= XP_005245685.1:n.-310+10877G=
XM_011510182.1:c.-766-4299G= XP_011508484.1:n.-766-4299G=
XM_011510183.1:c.-841-4299G= XP_011508485.1:n.-841-4299G=
XM_011510184.1:c.-458-4299G= XP_011508486.1:n.-458-4299G=
NM_001319230.1:c.-310+10877G= NP_001306159.1:n.-310+10877G=
NM_001319231.1:c.-458-4299G= NP_001306160.1:n.-458-4299G=
XM_017002911.2:c.-310+10657G= XP_016858400.1:n.-310+10657G=
NM_014656.3:c.-383-4299G= MANE Select NP_055471.2:n.-383-4299G=
NM_001162893.2:c.-383-4299G= NP_001156365.1:n.-383-4299G=
NM_001162894.2:c.-383-4299G= NP_001156366.1:n.-383-4299G=
NM_001162895.2:c.-310+10657G= NP_001156367.1:n.-310+10657G=
NM_001319230.2:c.-310+10877G= NP_001306159.1:n.-310+10877G=
NM_001319231.2:c.-458-4299G= NP_001306160.1:n.-458-4299G=