Canonical Allele Identifier: CA624693504

Linked Data

dbSNP Id: rs1420889442
gnomAD v2: 17-7123068-G-T
gnomAD v3: 17-7219749-G-T
gnomAD v4: 17-7219749-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219749G>T , CM000679.2:g.7219749G>T GRCh38
NC_000017.10:g.7123068G>T , CM000679.1:g.7123068G>T GRCh37
NC_000017.9:g.7063792G>T NCBI36
NG_007975.1:g.4916G>T
NG_008391.2:g.5302C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399510.8:c.-900C>A (DLG4) ENSP00000382428.3:n.-900C>A
ENST00000648172.8:c.-900C>A (DLG4) ENSP00000497806.3:n.-900C>A
ENST00000543245.6:c.132-373G>T (ACADVL) ENSP00000438689.2:n.132-373G>T
NM_001270447.1:c.132-373G>T (ACADVL) NP_001257376.1:n.132-373G>T
NM_001365.3:c.-900C>A (DLG4) NP_001356.1:n.-900C>A
XM_005256489.2:c.-900C>A (DLG4) XP_005256546.1:n.-900C>A
XM_011523698.1:c.-900C>A (DLG4) XP_011522000.1:n.-900C>A
XM_011523699.1:c.-170C>A (DLG4) XP_011522001.1:n.-170C>A
XR_243545.2:n.100C>A (DLG4)
XR_934005.1:n.100C>A (DLG4)
NM_001321074.1:c.-900C>A (DLG4) NP_001308003.1:n.-900C>A
NM_001365.4:c.-900C>A (DLG4) NP_001356.1:n.-900C>A
NR_135527.1:n.302C>A (DLG4)
XM_011523699.2:c.-170C>A (DLG4) XP_011522001.1:n.-170C>A
XR_934005.2:n.94C>A (DLG4)
NM_001270447.2:c.132-373G>T (ACADVL) NP_001257376.1:n.132-373G>T