Canonical Allele Identifier: CA10646923

Gene: CIITA

Linked Data

• ClinVar Variation Id: 317728
• ClinVar RCV Id: RCV000364465 ; RCV003409494
• dbSNP Id: rs45617532
• gnomAD v2: 16-11017815-T-C
• gnomAD v3: 16-10923958-T-C
• gnomAD v4: 16-10923958-T-C
• MyVariant Identifiers: chr16:g.11017815T>C (hg19) ; chr16:g.10923958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10923958T>C , CM000678.2:g.10923958T>C	GRCh38
NC_000016.9:g.11017815T>C , CM000678.1:g.11017815T>C	GRCh37
NC_000016.8:g.10925316T>C	NCBI36
NG_009628.1:g.51761T>C , LRG_49:g.51761T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324288.14:c.*103T>C MANE Select	ENSP00000316328.8:n.*103T>C
ENST00000644232.1:c.266+633T>C
ENST00000646979.1:c.266+633T>C
ENST00000324288.12:c.*103T>C	ENSP00000316328.8:n.*103T>C
ENST00000381835.9:c.*103T>C	ENSP00000371257.5:n.*103T>C
ENST00000570546.5:n.4496T>C
ENST00000575513.1:n.482T>C
ENST00000618207.4:c.*624T>C	ENSP00000484761.1:n.*624T>C
ENST00000618327.4:c.*103T>C	ENSP00000485010.1:n.*103T>C
NM_000246.3:c.*103T>C , LRG_49t1:c.*103T>C	NP_000237.2:n.*103T>C
NM_001286402.1:c.*103T>C	NP_001273331.1:n.*103T>C
NM_001286403.1:c.*103T>C	NP_001273332.1:n.*103T>C
NR_104444.1:n.1819T>C
XM_006720880.2:c.*22+633T>C	XP_006720943.2:n.*22+633T>C
XM_011522484.1:c.*103T>C	XP_011520786.1:n.*103T>C
XM_011522485.1:c.*22+633T>C	XP_011520787.1:n.*22+633T>C
XM_011522487.1:c.3466+633T>C	XP_011520789.1:n.3466+633T>C
XM_011522488.1:c.*22+633T>C	XP_011520790.1:n.*22+633T>C
XM_011522489.1:c.3463+633T>C	XP_011520791.1:n.3463+633T>C
XM_011522490.1:c.*22+633T>C	XP_011520792.1:n.*22+633T>C
XM_011522492.1:c.*22+633T>C	XP_011520794.1:n.*22+633T>C
XM_011522493.1:c.*22+633T>C	XP_011520795.1:n.*22+633T>C
XM_011522494.1:c.*22+633T>C	XP_011520796.1:n.*22+633T>C
XM_011522495.1:c.*22+633T>C	XP_011520797.1:n.*22+633T>C
XM_011522496.1:c.*22+633T>C	XP_011520798.1:n.*22+633T>C
XR_932841.1:n.3727+633T>C
XR_932842.1:n.3727+633T>C
XR_932843.1:n.3727+633T>C
XR_932846.1:n.3854T>C
XR_932848.1:n.1813+633T>C
XM_006720880.3:c.*22+633T>C	XP_006720943.2:n.*22+633T>C
XM_011522484.3:c.*103T>C	XP_011520786.1:n.*103T>C
XM_011522485.2:c.*22+633T>C	XP_011520787.1:n.*22+633T>C
XM_011522487.2:c.3466+633T>C	XP_011520789.1:n.3466+633T>C
XM_011522488.2:c.*22+633T>C	XP_011520790.1:n.*22+633T>C
XM_011522489.2:c.3463+633T>C	XP_011520791.1:n.3463+633T>C
XM_011522490.2:c.*22+633T>C	XP_011520792.1:n.*22+633T>C
XM_011522492.2:c.*22+633T>C	XP_011520794.1:n.*22+633T>C
XM_011522493.2:c.*22+633T>C	XP_011520795.1:n.*22+633T>C
XM_011522494.2:c.*22+633T>C	XP_011520796.1:n.*22+633T>C
XM_011522495.2:c.*22+633T>C	XP_011520797.1:n.*22+633T>C
XM_011522496.2:c.*22+633T>C	XP_011520798.1:n.*22+633T>C
XM_024450280.1:c.*22+633T>C	XP_024306048.1:n.*22+633T>C
XM_024450281.1:c.*22+633T>C	XP_024306049.1:n.*22+633T>C
XR_001751904.1:n.3777+633T>C
XR_932841.3:n.3729+633T>C
XR_932842.2:n.3729+633T>C
XR_932846.3:n.3858T>C
NM_001286403.2:c.*103T>C	NP_001273332.1:n.*103T>C
NR_104444.2:n.1815T>C
NM_000246.4:c.*103T>C MANE Select	NP_000237.2:n.*103T>C
NM_001379330.1:c.*22+633T>C	NP_001366259.1:n.*22+633T>C
NM_001379331.1:c.*22+633T>C	NP_001366260.1:n.*22+633T>C
NM_001379332.1:c.*22+633T>C	NP_001366261.1:n.*22+633T>C
NM_001379333.1:c.*22+633T>C	NP_001366262.1:n.*22+633T>C
NM_001379334.1:c.*22+633T>C	NP_001366263.1:n.*22+633T>C