Canonical Allele Identifier: CA7899786

Gene: CIITA

Linked Data

• ClinVar Variation Id: 459197
• ClinVar RCV Id: RCV000533575 ; RCV003915500
• dbSNP Id: rs34648899
• ExAC: 16:10995907 C / G
• gnomAD v2: 16-10995907-C-G
• gnomAD v3: 16-10902050-C-G
• gnomAD v4: 16-10902050-C-G
• MyVariant Identifiers: chr16:g.10995907C>G (hg19) ; chr16:g.10902050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902050C>G , CM000678.2:g.10902050C>G	GRCh38
NC_000016.9:g.10995907C>G , CM000678.1:g.10995907C>G	GRCh37
NC_000016.8:g.10903408C>G	NCBI36
NG_009628.1:g.29853C>G , LRG_49:g.29853C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695879.1:n.519C>G
ENST00000324288.14:c.494C>G MANE Select	ENSP00000316328.8:p.Thr165Ser
ENST00000637439.1:c.728C>G	ENSP00000489907.1:p.Thr243Ser
ENST00000324288.12:c.494C>G	ENSP00000316328.8:p.Thr165Ser
ENST00000381835.9:c.481+492C>G	ENSP00000371257.5:n.481+492C>G
ENST00000537380.1:n.494C>G
ENST00000570546.5:n.615C>G
ENST00000571186.5:c.*215C>G	ENSP00000459829.1:n.*215C>G
ENST00000573309.5:n.599+492C>G
ENST00000576601.1:c.422C>G	ENSP00000459608.1:p.Thr141Ser
ENST00000611587.4:c.484+492C>G	ENSP00000483487.1:n.484+492C>G
ENST00000618207.4:c.494C>G	ENSP00000484761.1:p.Thr165Ser
ENST00000618327.4:c.497C>G	ENSP00000485010.1:p.Thr166Ser
NM_000246.3:c.494C>G , LRG_49t1:c.494C>G	NP_000237.2:p.Thr165Ser
NM_001286402.1:c.497C>G	NP_001273331.1:p.Thr166Ser
NM_001286403.1:c.481+492C>G	NP_001273332.1:n.481+492C>G
NR_104444.1:n.627C>G
XM_006720880.2:c.791C>G	XP_006720943.2:p.Thr264Ser
XM_011522484.1:c.791C>G	XP_011520786.1:p.Thr264Ser
XM_011522485.1:c.791C>G	XP_011520787.1:p.Thr264Ser
XM_011522486.1:c.791C>G	XP_011520788.1:p.Thr264Ser
XM_011522487.1:c.679+492C>G	XP_011520789.1:n.679+492C>G
XM_011522488.1:c.542C>G	XP_011520790.1:p.Thr181Ser
XM_011522489.1:c.676+492C>G	XP_011520791.1:n.676+492C>G
XM_011522490.1:c.539C>G	XP_011520792.1:p.Thr180Ser
XM_011522491.1:c.791C>G	XP_011520793.1:p.Thr264Ser
XM_011522492.1:c.497C>G	XP_011520794.1:p.Thr166Ser
XM_011522493.1:c.494C>G	XP_011520795.1:p.Thr165Ser
XM_011522494.1:c.425C>G	XP_011520796.1:p.Thr142Ser
XM_011522495.1:c.484+492C>G	XP_011520797.1:n.484+492C>G
XM_011522496.1:c.481+492C>G	XP_011520798.1:n.481+492C>G
XR_932841.1:n.806C>G
XR_932842.1:n.806C>G
XR_932843.1:n.806C>G
XR_932846.1:n.806C>G
XR_932847.1:n.806C>G
XR_932848.1:n.631+492C>G
XM_006720880.3:c.791C>G	XP_006720943.2:p.Thr264Ser
XM_011522484.3:c.791C>G	XP_011520786.1:p.Thr264Ser
XM_011522485.2:c.791C>G	XP_011520787.1:p.Thr264Ser
XM_011522486.2:c.791C>G	XP_011520788.1:p.Thr264Ser
XM_011522487.2:c.679+492C>G	XP_011520789.1:n.679+492C>G
XM_011522488.2:c.542C>G	XP_011520790.1:p.Thr181Ser
XM_011522489.2:c.676+492C>G	XP_011520791.1:n.676+492C>G
XM_011522490.2:c.539C>G	XP_011520792.1:p.Thr180Ser
XM_011522491.2:c.791C>G	XP_011520793.1:p.Thr264Ser
XM_011522492.2:c.497C>G	XP_011520794.1:p.Thr166Ser
XM_011522493.2:c.494C>G	XP_011520795.1:p.Thr165Ser
XM_011522494.2:c.425C>G	XP_011520796.1:p.Thr142Ser
XM_011522495.2:c.484+492C>G	XP_011520797.1:n.484+492C>G
XM_011522496.2:c.481+492C>G	XP_011520798.1:n.481+492C>G
XM_024450280.1:c.737C>G	XP_024306048.1:p.Thr246Ser
XM_024450281.1:c.724+492C>G	XP_024306049.1:n.724+492C>G
XR_001751904.1:n.810C>G
XR_932841.3:n.808C>G
XR_932842.2:n.808C>G
XR_932846.3:n.810C>G
XR_932847.3:n.810C>G
NM_001286403.2:c.481+492C>G	NP_001273332.1:n.481+492C>G
NR_104444.2:n.623C>G
NM_000246.4:c.494C>G MANE Select	NP_000237.2:p.Thr165Ser
NM_001379330.1:c.484+492C>G	NP_001366259.1:n.484+492C>G
NM_001379331.1:c.481+492C>G	NP_001366260.1:n.481+492C>G
NM_001379332.1:c.497C>G	NP_001366261.1:p.Thr166Ser
NM_001379333.1:c.494C>G	NP_001366262.1:p.Thr165Ser
NM_001379334.1:c.425C>G	NP_001366263.1:p.Thr142Ser