Canonical Allele Identifier: CA10692446
Gene: KIAA0040 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.175160555G>T , CM000663.2:g.175160555G>T GRCh38
NC_000001.10:g.175129691G>T , CM000663.1:g.175129691G>T GRCh37
NC_000001.9:g.173396314G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000423313.6:c.*159C>A MANE Select ENSP00000462172.1:n.*159C>A
ENST00000423313.5:c.*159C>A ENSP00000462172.1:n.*159C>A
ENST00000444639.5:c.*159C>A ENSP00000463734.1:n.*159C>A
ENST00000545251.6:c.*159C>A ENSP00000464040.1:n.*159C>A
ENST00000619513.1:c.76C>A ENSP00000478803.1:p.Gln26Lys
NM_001162893.1:c.*159C>A NP_001156365.1:n.*159C>A
NM_001162894.1:c.*159C>A NP_001156366.1:n.*159C>A
NM_001162895.1:c.*159C>A NP_001156367.1:n.*159C>A
NM_014656.2:c.*159C>A NP_055471.2:n.*159C>A
XM_005245628.3:c.*159C>A XP_005245685.1:n.*159C>A
XM_011510182.1:c.76C>A XP_011508484.1:p.Gln26Lys
XM_011510183.1:c.76C>A XP_011508485.1:p.Gln26Lys
XM_011510184.1:c.*159C>A XP_011508486.1:n.*159C>A
NM_001319230.1:c.*159C>A NP_001306159.1:n.*159C>A
NM_001319231.1:c.*159C>A NP_001306160.1:n.*159C>A
XM_017002911.2:c.*159C>A XP_016858400.1:n.*159C>A
NM_014656.3:c.*159C>A MANE Select NP_055471.2:n.*159C>A
NM_001162893.2:c.*159C>A NP_001156365.1:n.*159C>A
NM_001162894.2:c.*159C>A NP_001156366.1:n.*159C>A
NM_001162895.2:c.*159C>A NP_001156367.1:n.*159C>A
NM_001319230.2:c.*159C>A NP_001306159.1:n.*159C>A
NM_001319231.2:c.*159C>A NP_001306160.1:n.*159C>A