Canonical Allele Identifier: CA1009379894

Gene: KIAA0040

Linked Data

• dbSNP Id: rs1480204669
• gnomAD v3: 1-175181980-G-A
• gnomAD v4: 1-175181980-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.175181980G>A , CM000663.2:g.175181980G>A	GRCh38
NC_000001.10:g.175151116G>A , CM000663.1:g.175151116G>A	GRCh37
NC_000001.9:g.173417739G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000423313.6:c.-383-4296C>T MANE Select	ENSP00000462172.1:n.-383-4296C>T
ENST00000423313.5:c.-383-4296C>T	ENSP00000462172.1:n.-383-4296C>T
ENST00000444639.5:c.-383-4296C>T	ENSP00000463734.1:n.-383-4296C>T
ENST00000545251.6:c.-310+10660C>T	ENSP00000464040.1:n.-310+10660C>T
ENST00000563563.2:n.218-4296C>T
ENST00000567124.5:n.137-4296C>T
NM_001162893.1:c.-383-4296C>T	NP_001156365.1:n.-383-4296C>T
NM_001162894.1:c.-383-4296C>T	NP_001156366.1:n.-383-4296C>T
NM_001162895.1:c.-310+10660C>T	NP_001156367.1:n.-310+10660C>T
NM_014656.2:c.-383-4296C>T	NP_055471.2:n.-383-4296C>T
XM_005245628.3:c.-310+10880C>T	XP_005245685.1:n.-310+10880C>T
XM_011510182.1:c.-766-4296C>T	XP_011508484.1:n.-766-4296C>T
XM_011510183.1:c.-841-4296C>T	XP_011508485.1:n.-841-4296C>T
XM_011510184.1:c.-458-4296C>T	XP_011508486.1:n.-458-4296C>T
NM_001319230.1:c.-310+10880C>T	NP_001306159.1:n.-310+10880C>T
NM_001319231.1:c.-458-4296C>T	NP_001306160.1:n.-458-4296C>T
XM_017002911.2:c.-310+10660C>T	XP_016858400.1:n.-310+10660C>T
NM_014656.3:c.-383-4296C>T MANE Select	NP_055471.2:n.-383-4296C>T
NM_001162893.2:c.-383-4296C>T	NP_001156365.1:n.-383-4296C>T
NM_001162894.2:c.-383-4296C>T	NP_001156366.1:n.-383-4296C>T
NM_001162895.2:c.-310+10660C>T	NP_001156367.1:n.-310+10660C>T
NM_001319230.2:c.-310+10880C>T	NP_001306159.1:n.-310+10880C>T
NM_001319231.2:c.-458-4296C>T	NP_001306160.1:n.-458-4296C>T