Canonical Allele Identifier: CA244356293
Community Standard Title: NM_001206999.2(CIT):c.4169-301G>A
Gene: CIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119714635C>T , CM000674.2:g.119714635C>T GRCh38
NC_000012.11:g.120152440C>T , CM000674.1:g.120152440C>T GRCh37
NC_000012.10:g.118636823C>T NCBI36
NG_029792.1:g.167656G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001206999.2:c.4169-301G>A MANE Select NP_001193928.1:n.4169-301G>A
ENST00000392521.7:c.4169-301G>A MANE Select ENSP00000376306.2:n.4169-301G>A
NM_001206999.1:c.4169-301G>A NP_001193928.1:n.4169-301G>A
NM_007174.2:c.4043-301G>A NP_009105.1:n.4043-301G>A
NM_007174.3:c.4043-301G>A NP_009105.1:n.4043-301G>A
ENST00000261833.11:c.4043-301G>A ENSP00000261833.7:n.4043-301G>A
ENST00000392520.2:c.2881-301G>A
ENST00000392521.6:c.4169-301G>A ENSP00000376306.2:n.4169-301G>A
ENST00000537607.5:n.2896-301G>A
ENST00000543324.2:n.726-301G>A
ENST00000544588.1:n.469-301G>A
ENST00000545913.5:n.4040-301G>A
ENST00000545913.6:n.4775-301G>A
ENST00000612548.4:c.1442-26571G>A ENSP00000482318.1:n.1442-26571G>A
ENST00000676693.1:n.1586-301G>A
ENST00000676833.1:n.3286-301G>A
ENST00000676849.1:c.2786-301G>A ENSP00000503214.1:n.2786-301G>A
ENST00000677438.1:c.*3275-301G>A ENSP00000504095.1:n.*3275-301G>A
ENST00000677738.1:n.1321-301G>A
ENST00000677812.1:c.*3389-301G>A ENSP00000504400.1:n.*3389-301G>A
ENST00000677849.1:c.*3275-301G>A ENSP00000503820.1:n.*3275-301G>A
ENST00000677993.1:c.2774-301G>A ENSP00000503765.1:n.2774-301G>A
ENST00000678087.1:c.2660-301G>A ENSP00000503863.1:n.2660-301G>A
ENST00000678236.1:n.4072-301G>A
ENST00000678494.1:c.1227-27601G>A ENSP00000503854.1:n.1227-27601G>A
ENST00000678652.1:c.2786-301G>A ENSP00000504849.1:n.2786-301G>A
ENST00000678677.1:c.2786-301G>A ENSP00000503253.1:n.2786-301G>A
ENST00000679120.1:c.*2176-301G>A ENSP00000502891.1:n.*2176-301G>A
ENST00000679249.1:c.2786-301G>A ENSP00000503976.1:n.2786-301G>A
ENST00000679285.1:n.1620-301G>A
XM_006719206.2:c.4124-301G>A XP_006719269.1:n.4124-301G>A
XM_011537783.1:c.4169-301G>A XP_011536085.1:n.4169-301G>A
XM_011537784.1:c.4169-301G>A XP_011536086.1:n.4169-301G>A
XM_011537785.1:c.4124-301G>A XP_011536087.1:n.4124-301G>A
XM_011537786.1:c.4043-301G>A XP_011536088.1:n.4043-301G>A
XM_011537787.1:c.3998-301G>A XP_011536089.1:n.3998-301G>A
XM_011537788.1:c.3998-301G>A XP_011536090.1:n.3998-301G>A
XM_011537789.1:c.2831-301G>A XP_011536091.1:n.2831-301G>A
XM_011537790.1:c.2831-301G>A XP_011536092.1:n.2831-301G>A
XM_011537790.2:c.2831-301G>A XP_011536092.1:n.2831-301G>A
XM_011537791.1:c.2771-301G>A XP_011536093.1:n.2771-301G>A
XM_011537791.2:c.2771-301G>A XP_011536093.1:n.2771-301G>A
XM_011537792.1:c.2600-301G>A XP_011536094.1:n.2600-301G>A
XM_011537792.2:c.2600-301G>A XP_011536094.1:n.2600-301G>A
XM_017018735.1:c.4169-301G>A XP_016874224.1:n.4169-301G>A
XM_017018736.1:c.4124-301G>A XP_016874225.1:n.4124-301G>A
XM_017018737.1:c.4124-301G>A XP_016874226.1:n.4124-301G>A
XM_017018738.1:c.2645-301G>A XP_016874227.1:n.2645-301G>A
XM_017018739.1:c.2600-301G>A XP_016874228.1:n.2600-301G>A