Canonical Allele Identifier: CA658798702

Gene: DLG4

Linked Data

• ClinVar Variation Id: 508877
• ClinVar RCV Id: RCV000602835
• dbSNP Id: rs1364324227
• gnomAD v4: 17-7196585-G-C
• MyVariant Identifiers: chr17:g.7099904G>C (hg19) ; chr17:g.7196585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7196585G>C , CM000679.2:g.7196585G>C	GRCh38
NC_000017.10:g.7099904G>C , CM000679.1:g.7099904G>C	GRCh37
NC_000017.9:g.7040628G>C	NCBI36
NG_008391.2:g.28466C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648103.2:n.1344-10C>G
ENST00000302955.11:c.1075-10C>G	ENSP00000307471.6:n.1075-10C>G
ENST00000399506.9:c.1084-10C>G MANE Select	ENSP00000382425.2:n.1084-10C>G
ENST00000399510.8:c.1204-10C>G	ENSP00000382428.3:n.1204-10C>G
ENST00000491753.2:c.1213-10C>G	ENSP00000467897.2:n.1213-10C>G
ENST00000648103.1:n.54-10C>G
ENST00000648172.8:c.1213-10C>G	ENSP00000497806.3:n.1213-10C>G
ENST00000648263.1:c.904-10C>G	ENSP00000498035.1:n.904-10C>G
ENST00000648707.1:n.1119-10C>G
ENST00000648896.1:c.1183-10C>G	ENSP00000497546.1:n.1183-10C>G
ENST00000649186.1:c.904-10C>G	ENSP00000497879.1:n.904-10C>G
ENST00000649520.1:c.904-10C>G	ENSP00000497647.1:n.904-10C>G
ENST00000649971.1:c.1003-10C>G	ENSP00000497011.1:n.1003-10C>G
ENST00000650120.1:c.904-10C>G	ENSP00000497553.1:n.904-10C>G
ENST00000302955.10:c.1075-10C>G	ENSP00000307471.6:n.1075-10C>G
ENST00000399506.6:c.1084-10C>G	ENSP00000382425.2:n.1084-10C>G
ENST00000399510.6:c.1213-10C>G	ENSP00000382428.2:n.1213-10C>G
NM_001128827.1:c.1075-10C>G	NP_001122299.1:n.1075-10C>G
NM_001365.3:c.1213-10C>G	NP_001356.1:n.1213-10C>G
XM_005256489.2:c.1204-10C>G	XP_005256546.1:n.1204-10C>G
XM_005256491.1:c.1174-10C>G	XP_005256548.1:n.1174-10C>G
XM_005256492.1:c.1084-10C>G	XP_005256549.1:n.1084-10C>G
XM_005256493.3:c.904-10C>G	XP_005256550.1:n.904-10C>G
XM_005256494.2:c.904-10C>G	XP_005256551.1:n.904-10C>G
XM_011523698.1:c.1303-10C>G	XP_011522000.1:n.1303-10C>G
XM_011523699.1:c.1303-10C>G	XP_011522001.1:n.1303-10C>G
XM_011523700.1:c.1096-10C>G	XP_011522002.1:n.1096-10C>G
XM_011523701.1:c.1186-10C>G	XP_011522003.1:n.1186-10C>G
XM_011523702.1:c.904-10C>G	XP_011522004.1:n.904-10C>G
XR_243545.2:n.2212-10C>G
XR_934005.1:n.2302-10C>G
NM_001128827.2:c.1075-10C>G	NP_001122299.1:n.1075-10C>G
NM_001321074.1:c.1204-10C>G	NP_001308003.1:n.1204-10C>G
NM_001321075.1:c.1084-10C>G	NP_001308004.1:n.1084-10C>G
NM_001321076.1:c.904-10C>G	NP_001308005.1:n.904-10C>G
NM_001321077.1:c.904-10C>G	NP_001308006.1:n.904-10C>G
NM_001365.4:c.1213-10C>G	NP_001356.1:n.1213-10C>G
NR_135527.1:n.2414-10C>G
XM_011523699.2:c.1303-10C>G	XP_011522001.1:n.1303-10C>G
XM_017024288.2:c.1018-10C>G	XP_016879777.1:n.1018-10C>G
XM_017024289.2:c.1009-10C>G	XP_016879778.1:n.1009-10C>G
XM_017024290.2:c.1003-10C>G	XP_016879779.1:n.1003-10C>G
XM_024450629.1:c.1069-10C>G	XP_024306397.1:n.1069-10C>G
XR_934005.2:n.2296-10C>G
NM_001128827.3:c.1075-10C>G	NP_001122299.1:n.1075-10C>G
NM_001321075.3:c.1084-10C>G MANE Select	NP_001308004.1:n.1084-10C>G
NM_001321076.2:c.904-10C>G	NP_001308005.1:n.904-10C>G
NM_001321077.2:c.904-10C>G	NP_001308006.1:n.904-10C>G
NM_001369566.2:c.1003-10C>G	NP_001356495.1:n.1003-10C>G
NM_001128827.4:c.1075-10C>G	NP_001122299.1:n.1075-10C>G
NM_001321076.3:c.904-10C>G	NP_001308005.1:n.904-10C>G
NM_001321077.3:c.904-10C>G	NP_001308006.1:n.904-10C>G
NM_001369566.3:c.1003-10C>G	NP_001356495.1:n.1003-10C>G