Canonical Allele Identifier: CA7900044

Gene: CIITA

Linked Data

• ClinVar Variation Id: 747806
• ClinVar RCV Id: RCV000924547
• dbSNP Id: rs147912483
• ExAC: 16:11000402 C / T
• gnomAD v2: 16-11000402-C-T
• gnomAD v3: 16-10906545-C-T
• gnomAD v4: 16-10906545-C-T
• MyVariant Identifiers: chr16:g.11000402C>T (hg19) ; chr16:g.10906545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10906545C>T , CM000678.2:g.10906545C>T	GRCh38
NC_000016.9:g.11000402C>T , CM000678.1:g.11000402C>T	GRCh37
NC_000016.8:g.10907903C>T	NCBI36
NG_009628.1:g.34348C>T , LRG_49:g.34348C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695879.1:n.1078C>T
ENST00000324288.14:c.1053C>T MANE Select	ENSP00000316328.8:p.Ala351=
ENST00000324288.12:c.1053C>T	ENSP00000316328.8:p.Ala351=
ENST00000381835.9:c.859+1733C>T	ENSP00000371257.5:n.859+1733C>T
ENST00000537380.1:n.1006+1733C>T
ENST00000570546.5:n.1174C>T
ENST00000573309.5:n.1024C>T
ENST00000611587.4:c.909C>T	ENSP00000483487.1:p.Ala303=
ENST00000618207.4:c.1006+1733C>T	ENSP00000484761.1:n.1006+1733C>T
ENST00000618327.4:c.1056C>T	ENSP00000485010.1:p.Ala352=
NM_000246.3:c.1053C>T , LRG_49t1:c.1053C>T	NP_000237.2:p.Ala351=
NM_001286402.1:c.1056C>T	NP_001273331.1:p.Ala352=
NM_001286403.1:c.859+1733C>T	NP_001273332.1:n.859+1733C>T
NR_104444.1:n.1139+1733C>T
XM_006720880.2:c.1350C>T	XP_006720943.2:p.Ala450=
XM_011522484.1:c.1350C>T	XP_011520786.1:p.Ala450=
XM_011522485.1:c.1350C>T	XP_011520787.1:p.Ala450=
XM_011522486.1:c.1350C>T	XP_011520788.1:p.Ala450=
XM_011522487.1:c.1104C>T	XP_011520789.1:p.Ala368=
XM_011522488.1:c.1101C>T	XP_011520790.1:p.Ala367=
XM_011522489.1:c.1101C>T	XP_011520791.1:p.Ala367=
XM_011522490.1:c.1098C>T	XP_011520792.1:p.Ala366=
XM_011522491.1:c.1350C>T	XP_011520793.1:p.Ala450=
XM_011522492.1:c.1056C>T	XP_011520794.1:p.Ala352=
XM_011522493.1:c.1053C>T	XP_011520795.1:p.Ala351=
XM_011522494.1:c.984C>T	XP_011520796.1:p.Ala328=
XM_011522495.1:c.909C>T	XP_011520797.1:p.Ala303=
XM_011522496.1:c.906C>T	XP_011520798.1:p.Ala302=
XR_932841.1:n.1365C>T
XR_932842.1:n.1365C>T
XR_932843.1:n.1365C>T
XR_932846.1:n.1365C>T
XR_932847.1:n.1365C>T
XR_932848.1:n.1009+1733C>T
XM_006720880.3:c.1350C>T	XP_006720943.2:p.Ala450=
XM_011522484.3:c.1350C>T	XP_011520786.1:p.Ala450=
XM_011522485.2:c.1350C>T	XP_011520787.1:p.Ala450=
XM_011522486.2:c.1350C>T	XP_011520788.1:p.Ala450=
XM_011522487.2:c.1104C>T	XP_011520789.1:p.Ala368=
XM_011522488.2:c.1101C>T	XP_011520790.1:p.Ala367=
XM_011522489.2:c.1101C>T	XP_011520791.1:p.Ala367=
XM_011522490.2:c.1098C>T	XP_011520792.1:p.Ala366=
XM_011522491.2:c.1350C>T	XP_011520793.1:p.Ala450=
XM_011522492.2:c.1056C>T	XP_011520794.1:p.Ala352=
XM_011522493.2:c.1053C>T	XP_011520795.1:p.Ala351=
XM_011522494.2:c.984C>T	XP_011520796.1:p.Ala328=
XM_011522495.2:c.909C>T	XP_011520797.1:p.Ala303=
XM_011522496.2:c.906C>T	XP_011520798.1:p.Ala302=
XM_024450280.1:c.1296C>T	XP_024306048.1:p.Ala432=
XM_024450281.1:c.1149C>T	XP_024306049.1:p.Ala383=
XR_001751904.1:n.1369C>T
XR_932841.3:n.1367C>T
XR_932842.2:n.1367C>T
XR_932846.3:n.1369C>T
XR_932847.3:n.1369C>T
NM_001286403.2:c.859+1733C>T	NP_001273332.1:n.859+1733C>T
NR_104444.2:n.1135+1733C>T
NM_000246.4:c.1053C>T MANE Select	NP_000237.2:p.Ala351=
NM_001379330.1:c.909C>T	NP_001366259.1:p.Ala303=
NM_001379331.1:c.906C>T	NP_001366260.1:p.Ala302=
NM_001379332.1:c.1056C>T	NP_001366261.1:p.Ala352=
NM_001379333.1:c.1053C>T	NP_001366262.1:p.Ala351=
NM_001379334.1:c.984C>T	NP_001366263.1:p.Ala328=