Canonical Allele Identifier: CA394732212
Community Standard Title: NM_000246.4(CIITA):c.2014C>T (p.Gln672Ter)
Gene: CIITA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10907506C>T , CM000678.2:g.10907506C>T GRCh38
NC_000016.9:g.11001363C>T , CM000678.1:g.11001363C>T GRCh37
NC_000016.8:g.10908864C>T NCBI36
NG_009628.1:g.35309C>T , LRG_49:g.35309C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000246.4:c.2014C>T MANE Select NP_000237.2:p.Gln672Ter
ENST00000324288.14:c.2014C>T MANE Select ENSP00000316328.8:p.Gln672Ter
NM_000246.3:c.2014C>T , LRG_49t1:c.2014C>T NP_000237.2:p.Gln672Ter
NM_001286402.1:c.2017C>T NP_001273331.1:p.Gln673Ter
NM_001286403.1:c.860-1477C>T NP_001273332.1:n.860-1477C>T
NM_001286403.2:c.860-1477C>T NP_001273332.1:n.860-1477C>T
NM_001379330.1:c.1870C>T NP_001366259.1:p.Gln624Ter
NM_001379331.1:c.1867C>T NP_001366260.1:p.Gln623Ter
NM_001379332.1:c.2017C>T NP_001366261.1:p.Gln673Ter
NM_001379333.1:c.2014C>T NP_001366262.1:p.Gln672Ter
NM_001379334.1:c.1945C>T NP_001366263.1:p.Gln649Ter
NR_104444.1:n.1140-2682C>T
NR_104444.2:n.1136-2682C>T
ENST00000324288.12:c.2014C>T ENSP00000316328.8:p.Gln672Ter
ENST00000381835.9:c.860-1477C>T ENSP00000371257.5:n.860-1477C>T
ENST00000537380.1:n.1007-2682C>T
ENST00000570546.5:n.2135C>T
ENST00000573309.5:n.1985C>T
ENST00000611587.4:c.1870C>T ENSP00000483487.1:p.Gln624Ter
ENST00000618207.4:c.1007-2682C>T ENSP00000484761.1:n.1007-2682C>T
ENST00000618327.4:c.2017C>T ENSP00000485010.1:p.Gln673Ter
ENST00000695879.1:n.1908C>T
XM_006720880.2:c.2311C>T XP_006720943.2:p.Gln771Ter
XM_006720880.3:c.2311C>T XP_006720943.2:p.Gln771Ter
XM_011522484.1:c.2311C>T XP_011520786.1:p.Gln771Ter
XM_011522484.3:c.2311C>T XP_011520786.1:p.Gln771Ter
XM_011522485.1:c.2311C>T XP_011520787.1:p.Gln771Ter
XM_011522485.2:c.2311C>T XP_011520787.1:p.Gln771Ter
XM_011522486.1:c.2311C>T XP_011520788.1:p.Gln771Ter
XM_011522486.2:c.2311C>T XP_011520788.1:p.Gln771Ter
XM_011522487.1:c.2065C>T XP_011520789.1:p.Gln689Ter
XM_011522487.2:c.2065C>T XP_011520789.1:p.Gln689Ter
XM_011522488.1:c.2062C>T XP_011520790.1:p.Gln688Ter
XM_011522488.2:c.2062C>T XP_011520790.1:p.Gln688Ter
XM_011522489.1:c.2062C>T XP_011520791.1:p.Gln688Ter
XM_011522489.2:c.2062C>T XP_011520791.1:p.Gln688Ter
XM_011522490.1:c.2059C>T XP_011520792.1:p.Gln687Ter
XM_011522490.2:c.2059C>T XP_011520792.1:p.Gln687Ter
XM_011522491.1:c.2311C>T XP_011520793.1:p.Gln771Ter
XM_011522491.2:c.2311C>T XP_011520793.1:p.Gln771Ter
XM_011522492.1:c.2017C>T XP_011520794.1:p.Gln673Ter
XM_011522492.2:c.2017C>T XP_011520794.1:p.Gln673Ter
XM_011522493.1:c.2014C>T XP_011520795.1:p.Gln672Ter
XM_011522493.2:c.2014C>T XP_011520795.1:p.Gln672Ter
XM_011522494.1:c.1945C>T XP_011520796.1:p.Gln649Ter
XM_011522494.2:c.1945C>T XP_011520796.1:p.Gln649Ter
XM_011522495.1:c.1870C>T XP_011520797.1:p.Gln624Ter
XM_011522495.2:c.1870C>T XP_011520797.1:p.Gln624Ter
XM_011522496.1:c.1867C>T XP_011520798.1:p.Gln623Ter
XM_011522496.2:c.1867C>T XP_011520798.1:p.Gln623Ter
XM_024450280.1:c.2257C>T XP_024306048.1:p.Gln753Ter
XM_024450281.1:c.2110C>T XP_024306049.1:p.Gln704Ter
XR_001751904.1:n.2330C>T
XR_932841.1:n.2326C>T
XR_932841.3:n.2328C>T
XR_932842.1:n.2326C>T
XR_932842.2:n.2328C>T
XR_932843.1:n.2326C>T
XR_932846.1:n.2326C>T
XR_932846.3:n.2330C>T
XR_932847.1:n.2326C>T
XR_932847.3:n.2330C>T
XR_932848.1:n.1010-1477C>T