Canonical Allele Identifier: CA7900457

Gene: CIITA

Linked Data

• dbSNP Id: rs375591179
• ExAC: 16:11002855 C / G
• gnomAD v2: 16-11002855-C-G
• gnomAD v3: 16-10908998-C-G
• gnomAD v4: 16-10908998-C-G
• MyVariant Identifiers: chr16:g.11002855C>G (hg19) ; chr16:g.10908998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10908998C>G , CM000678.2:g.10908998C>G	GRCh38
NC_000016.9:g.11002855C>G , CM000678.1:g.11002855C>G	GRCh37
NC_000016.8:g.10910356C>G	NCBI36
NG_009628.1:g.36801C>G , LRG_49:g.36801C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324288.14:c.2658-31C>G MANE Select	ENSP00000316328.8:n.2658-31C>G
ENST00000324288.12:c.2658-31C>G	ENSP00000316328.8:n.2658-31C>G
ENST00000381835.9:c.875C>G	ENSP00000371257.5:p.Pro292Arg
ENST00000537380.1:n.1007-1190C>G
ENST00000570546.5:n.3627C>G
ENST00000618207.4:c.1007-1190C>G	ENSP00000484761.1:n.1007-1190C>G
ENST00000618327.4:c.2661-31C>G	ENSP00000485010.1:n.2661-31C>G
NM_000246.3:c.2658-31C>G , LRG_49t1:c.2658-31C>G	NP_000237.2:n.2658-31C>G
NM_001286402.1:c.2661-31C>G	NP_001273331.1:n.2661-31C>G
NM_001286403.1:c.875C>G	NP_001273332.1:p.Pro292Arg
NR_104444.1:n.1140-1190C>G
XM_006720880.2:c.2955-31C>G	XP_006720943.2:n.2955-31C>G
XM_011522484.1:c.2955-31C>G	XP_011520786.1:n.2955-31C>G
XM_011522485.1:c.2955-31C>G	XP_011520787.1:n.2955-31C>G
XM_011522486.1:c.2955-31C>G	XP_011520788.1:n.2955-31C>G
XM_011522487.1:c.2709-31C>G	XP_011520789.1:n.2709-31C>G
XM_011522488.1:c.2706-31C>G	XP_011520790.1:n.2706-31C>G
XM_011522489.1:c.2706-31C>G	XP_011520791.1:n.2706-31C>G
XM_011522490.1:c.2703-31C>G	XP_011520792.1:n.2703-31C>G
XM_011522491.1:c.2955-31C>G	XP_011520793.1:n.2955-31C>G
XM_011522492.1:c.2661-31C>G	XP_011520794.1:n.2661-31C>G
XM_011522493.1:c.2658-31C>G	XP_011520795.1:n.2658-31C>G
XM_011522494.1:c.2589-31C>G	XP_011520796.1:n.2589-31C>G
XM_011522495.1:c.2514-31C>G	XP_011520797.1:n.2514-31C>G
XM_011522496.1:c.2511-31C>G	XP_011520798.1:n.2511-31C>G
XR_932841.1:n.2970-31C>G
XR_932842.1:n.2970-31C>G
XR_932843.1:n.2970-31C>G
XR_932846.1:n.2985C>G
XR_932847.1:n.2985C>G
XR_932848.1:n.1025C>G
XM_006720880.3:c.2955-31C>G	XP_006720943.2:n.2955-31C>G
XM_011522484.3:c.2955-31C>G	XP_011520786.1:n.2955-31C>G
XM_011522485.2:c.2955-31C>G	XP_011520787.1:n.2955-31C>G
XM_011522486.2:c.2955-31C>G	XP_011520788.1:n.2955-31C>G
XM_011522487.2:c.2709-31C>G	XP_011520789.1:n.2709-31C>G
XM_011522488.2:c.2706-31C>G	XP_011520790.1:n.2706-31C>G
XM_011522489.2:c.2706-31C>G	XP_011520791.1:n.2706-31C>G
XM_011522490.2:c.2703-31C>G	XP_011520792.1:n.2703-31C>G
XM_011522491.2:c.2955-31C>G	XP_011520793.1:n.2955-31C>G
XM_011522492.2:c.2661-31C>G	XP_011520794.1:n.2661-31C>G
XM_011522493.2:c.2658-31C>G	XP_011520795.1:n.2658-31C>G
XM_011522494.2:c.2589-31C>G	XP_011520796.1:n.2589-31C>G
XM_011522495.2:c.2514-31C>G	XP_011520797.1:n.2514-31C>G
XM_011522496.2:c.2511-31C>G	XP_011520798.1:n.2511-31C>G
XM_024450280.1:c.2901-31C>G	XP_024306048.1:n.2901-31C>G
XM_024450281.1:c.2754-31C>G	XP_024306049.1:n.2754-31C>G
XR_001751904.1:n.2989C>G
XR_932841.3:n.2972-31C>G
XR_932842.2:n.2972-31C>G
XR_932846.3:n.2989C>G
XR_932847.3:n.2989C>G
NM_001286403.2:c.875C>G	NP_001273332.1:p.Pro292Arg
NR_104444.2:n.1136-1190C>G
NM_000246.4:c.2658-31C>G MANE Select	NP_000237.2:n.2658-31C>G
NM_001379330.1:c.2514-31C>G	NP_001366259.1:n.2514-31C>G
NM_001379331.1:c.2511-31C>G	NP_001366260.1:n.2511-31C>G
NM_001379332.1:c.2661-31C>G	NP_001366261.1:n.2661-31C>G
NM_001379333.1:c.2658-31C>G	NP_001366262.1:n.2658-31C>G
NM_001379334.1:c.2589-31C>G	NP_001366263.1:n.2589-31C>G