Canonical Allele Identifier: CA7900465

Gene: CIITA

Linked Data

• ClinVar Variation Id: 317717
• ClinVar RCV Id: RCV001824731
• dbSNP Id: rs2228238
• ExAC: 16:11002904 G / A
• gnomAD v2: 16-11002904-G-A
• gnomAD v3: 16-10909047-G-A
• gnomAD v4: 16-10909047-G-A
• MyVariant Identifiers: chr16:g.11002904G>A (hg19) ; chr16:g.10909047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10909047G>A , CM000678.2:g.10909047G>A	GRCh38
NC_000016.9:g.11002904G>A , CM000678.1:g.11002904G>A	GRCh37
NC_000016.8:g.10910405G>A	NCBI36
NG_009628.1:g.36850G>A , LRG_49:g.36850G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324288.14:c.2676G>A MANE Select	ENSP00000316328.8:p.Thr892=
ENST00000324288.12:c.2676G>A	ENSP00000316328.8:p.Thr892=
ENST00000381835.9:c.924G>A	ENSP00000371257.5:p.Thr308=
ENST00000537380.1:n.1007-1141G>A
ENST00000570546.5:n.3676G>A
ENST00000618207.4:c.1007-1141G>A	ENSP00000484761.1:n.1007-1141G>A
ENST00000618327.4:c.2679G>A	ENSP00000485010.1:p.Thr893=
NM_000246.3:c.2676G>A , LRG_49t1:c.2676G>A	NP_000237.2:p.Thr892=
NM_001286402.1:c.2679G>A	NP_001273331.1:p.Thr893=
NM_001286403.1:c.924G>A	NP_001273332.1:p.Thr308=
NR_104444.1:n.1140-1141G>A
XM_006720880.2:c.2973G>A	XP_006720943.2:p.Thr991=
XM_011522484.1:c.2973G>A	XP_011520786.1:p.Thr991=
XM_011522485.1:c.2973G>A	XP_011520787.1:p.Thr991=
XM_011522486.1:c.2973G>A	XP_011520788.1:p.Thr991=
XM_011522487.1:c.2727G>A	XP_011520789.1:p.Thr909=
XM_011522488.1:c.2724G>A	XP_011520790.1:p.Thr908=
XM_011522489.1:c.2724G>A	XP_011520791.1:p.Thr908=
XM_011522490.1:c.2721G>A	XP_011520792.1:p.Thr907=
XM_011522491.1:c.2973G>A	XP_011520793.1:p.Thr991=
XM_011522492.1:c.2679G>A	XP_011520794.1:p.Thr893=
XM_011522493.1:c.2676G>A	XP_011520795.1:p.Thr892=
XM_011522494.1:c.2607G>A	XP_011520796.1:p.Thr869=
XM_011522495.1:c.2532G>A	XP_011520797.1:p.Thr844=
XM_011522496.1:c.2529G>A	XP_011520798.1:p.Thr843=
XR_932841.1:n.2988G>A
XR_932842.1:n.2988G>A
XR_932843.1:n.2988G>A
XR_932846.1:n.3034G>A
XR_932847.1:n.3034G>A
XR_932848.1:n.1074G>A
XM_006720880.3:c.2973G>A	XP_006720943.2:p.Thr991=
XM_011522484.3:c.2973G>A	XP_011520786.1:p.Thr991=
XM_011522485.2:c.2973G>A	XP_011520787.1:p.Thr991=
XM_011522486.2:c.2973G>A	XP_011520788.1:p.Thr991=
XM_011522487.2:c.2727G>A	XP_011520789.1:p.Thr909=
XM_011522488.2:c.2724G>A	XP_011520790.1:p.Thr908=
XM_011522489.2:c.2724G>A	XP_011520791.1:p.Thr908=
XM_011522490.2:c.2721G>A	XP_011520792.1:p.Thr907=
XM_011522491.2:c.2973G>A	XP_011520793.1:p.Thr991=
XM_011522492.2:c.2679G>A	XP_011520794.1:p.Thr893=
XM_011522493.2:c.2676G>A	XP_011520795.1:p.Thr892=
XM_011522494.2:c.2607G>A	XP_011520796.1:p.Thr869=
XM_011522495.2:c.2532G>A	XP_011520797.1:p.Thr844=
XM_011522496.2:c.2529G>A	XP_011520798.1:p.Thr843=
XM_024450280.1:c.2919G>A	XP_024306048.1:p.Thr973=
XM_024450281.1:c.2772G>A	XP_024306049.1:p.Thr924=
XR_001751904.1:n.3038G>A
XR_932841.3:n.2990G>A
XR_932842.2:n.2990G>A
XR_932846.3:n.3038G>A
XR_932847.3:n.3038G>A
NM_001286403.2:c.924G>A	NP_001273332.1:p.Thr308=
NR_104444.2:n.1136-1141G>A
NM_000246.4:c.2676G>A MANE Select	NP_000237.2:p.Thr892=
NM_001379330.1:c.2532G>A	NP_001366259.1:p.Thr844=
NM_001379331.1:c.2529G>A	NP_001366260.1:p.Thr843=
NM_001379332.1:c.2679G>A	NP_001366261.1:p.Thr893=
NM_001379333.1:c.2676G>A	NP_001366262.1:p.Thr892=
NM_001379334.1:c.2607G>A	NP_001366263.1:p.Thr869=