Canonical Allele Identifier: CA7899824

Gene: CIITA

Linked Data

• ClinVar Variation Id: 3019342
• ClinVar RCV Id: RCV003871973
• dbSNP Id: rs755343798
• ExAC: 16:10996019 G / C
• gnomAD v2: 16-10996019-G-C
• gnomAD v4: 16-10902162-G-C
• MyVariant Identifiers: chr16:g.10996019G>C (hg19) ; chr16:g.10902162G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10902162G>C , CM000678.2:g.10902162G>C	GRCh38
NC_000016.9:g.10996019G>C , CM000678.1:g.10996019G>C	GRCh37
NC_000016.8:g.10903520G>C	NCBI36
NG_009628.1:g.29965G>C , LRG_49:g.29965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695879.1:n.631G>C
ENST00000324288.14:c.606G>C MANE Select	ENSP00000316328.8:p.Leu202=
ENST00000324288.12:c.606G>C	ENSP00000316328.8:p.Leu202=
ENST00000381835.9:c.482-496G>C	ENSP00000371257.5:n.482-496G>C
ENST00000537380.1:n.606G>C
ENST00000570546.5:n.727G>C
ENST00000571186.5:c.*327G>C	ENSP00000459829.1:n.*327G>C
ENST00000573309.5:n.600-496G>C
ENST00000611587.4:c.485-496G>C	ENSP00000483487.1:n.485-496G>C
ENST00000618207.4:c.606G>C	ENSP00000484761.1:p.Leu202=
ENST00000618327.4:c.609G>C	ENSP00000485010.1:p.Leu203=
NM_000246.3:c.606G>C , LRG_49t1:c.606G>C	NP_000237.2:p.Leu202=
NM_001286402.1:c.609G>C	NP_001273331.1:p.Leu203=
NM_001286403.1:c.482-496G>C	NP_001273332.1:n.482-496G>C
NR_104444.1:n.739G>C
XM_006720880.2:c.903G>C	XP_006720943.2:p.Leu301=
XM_011522484.1:c.903G>C	XP_011520786.1:p.Leu301=
XM_011522485.1:c.903G>C	XP_011520787.1:p.Leu301=
XM_011522486.1:c.903G>C	XP_011520788.1:p.Leu301=
XM_011522487.1:c.680-496G>C	XP_011520789.1:n.680-496G>C
XM_011522488.1:c.654G>C	XP_011520790.1:p.Leu218=
XM_011522489.1:c.677-496G>C	XP_011520791.1:n.677-496G>C
XM_011522490.1:c.651G>C	XP_011520792.1:p.Leu217=
XM_011522491.1:c.903G>C	XP_011520793.1:p.Leu301=
XM_011522492.1:c.609G>C	XP_011520794.1:p.Leu203=
XM_011522493.1:c.606G>C	XP_011520795.1:p.Leu202=
XM_011522494.1:c.537G>C	XP_011520796.1:p.Leu179=
XM_011522495.1:c.485-496G>C	XP_011520797.1:n.485-496G>C
XM_011522496.1:c.482-496G>C	XP_011520798.1:n.482-496G>C
XR_932841.1:n.918G>C
XR_932842.1:n.918G>C
XR_932843.1:n.918G>C
XR_932846.1:n.918G>C
XR_932847.1:n.918G>C
XR_932848.1:n.632-496G>C
XM_006720880.3:c.903G>C	XP_006720943.2:p.Leu301=
XM_011522484.3:c.903G>C	XP_011520786.1:p.Leu301=
XM_011522485.2:c.903G>C	XP_011520787.1:p.Leu301=
XM_011522486.2:c.903G>C	XP_011520788.1:p.Leu301=
XM_011522487.2:c.680-496G>C	XP_011520789.1:n.680-496G>C
XM_011522488.2:c.654G>C	XP_011520790.1:p.Leu218=
XM_011522489.2:c.677-496G>C	XP_011520791.1:n.677-496G>C
XM_011522490.2:c.651G>C	XP_011520792.1:p.Leu217=
XM_011522491.2:c.903G>C	XP_011520793.1:p.Leu301=
XM_011522492.2:c.609G>C	XP_011520794.1:p.Leu203=
XM_011522493.2:c.606G>C	XP_011520795.1:p.Leu202=
XM_011522494.2:c.537G>C	XP_011520796.1:p.Leu179=
XM_011522495.2:c.485-496G>C	XP_011520797.1:n.485-496G>C
XM_011522496.2:c.482-496G>C	XP_011520798.1:n.482-496G>C
XM_024450280.1:c.849G>C	XP_024306048.1:p.Leu283=
XM_024450281.1:c.725-496G>C	XP_024306049.1:n.725-496G>C
XR_001751904.1:n.922G>C
XR_932841.3:n.920G>C
XR_932842.2:n.920G>C
XR_932846.3:n.922G>C
XR_932847.3:n.922G>C
NM_001286403.2:c.482-496G>C	NP_001273332.1:n.482-496G>C
NR_104444.2:n.735G>C
NM_000246.4:c.606G>C MANE Select	NP_000237.2:p.Leu202=
NM_001379330.1:c.485-496G>C	NP_001366259.1:n.485-496G>C
NM_001379331.1:c.482-496G>C	NP_001366260.1:n.482-496G>C
NM_001379332.1:c.609G>C	NP_001366261.1:p.Leu203=
NM_001379333.1:c.606G>C	NP_001366262.1:p.Leu202=
NM_001379334.1:c.537G>C	NP_001366263.1:p.Leu179=