Canonical Allele Identifier: CA8926629
Gene: DSG4 HGNC NCBI
DSG1-AS1 HGNC NCBI
ClinVar RCV:
RCV002938480
ClinVar Variation:
2056287
dbSNP:
755839912
gnomAD v2:
18:28966762 A / G
gnomAD v3:
18:31386799 A / G
gnomAD v4:
chr18-31386799-A-G
Joint Max Group AF 0.00120456 (AMR)
Genomes Max Group AF 0.00017027 (AMR)
Exomes Max Group AF 0.00149405 (AMR)
MyVariant.info:
GRCh38 chr18:g.31386799A>G
GRCh37 chr18:g.28966762A>G
Revel Score:
ENST00000308128 (MANE Select) 0.173
ENST00000359747 0.173
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31386799A>G , CM000680.2:g.31386799A>G GRCh38
NC_000018.9:g.28966762A>G , CM000680.1:g.28966762A>G GRCh37
NC_000018.8:g.27220760A>G NCBI36
NG_013040.1:g.15023A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308128.9:c.196A>G (DSG4) MANE Select ENSP00000311859.4:p.Lys66Glu
ENST00000308128.8:c.196A>G (DSG4) ENSP00000311859.4:p.Lys66Glu
ENST00000359747.4:c.196A>G (DSG4) ENSP00000352785.4:p.Lys66Glu
NM_001134453.1:c.196A>G (DSG4) NP_001127925.1:p.Lys66Glu
NM_177986.3:c.196A>G (DSG4) NP_817123.1:p.Lys66Glu
NR_110788.1:n.157-32346T>C (DSG1-AS1)
NM_001134453.2:c.196A>G (DSG4) NP_001127925.1:p.Lys66Glu
NM_177986.4:c.196A>G (DSG4) NP_817123.1:p.Lys66Glu
NM_177986.5:c.196A>G (DSG4) MANE Select NP_817123.1:p.Lys66Glu
NM_001134453.3:c.196A>G (DSG4) NP_001127925.1:p.Lys66Glu
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