Canonical Allele Identifier: CA8927121
Gene: DSG4 HGNC NCBI
DSG1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.31406370A>C
GRCh37 chr18:g.28986333A>C
Revel Score:
ENST00000308128 (MANE Select) 0.086
ENST00000359747 0.086
gnomAD v2:
18:28986333 A / C
gnomAD v3:
18:31406370 A / C
gnomAD v4:
chr18-31406370-A-C
Joint Max Group AF 0.99202557 (EAS)
Genomes Max Group AF 0.97706532 (EAS)
Exomes Max Group AF 0.99153317 (EAS)
ClinVar RCV:
RCV000309846
RCV001660674
ClinVar Variation:
326441
dbSNP:
4799570
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31406370A>C , CM000680.2:g.31406370A>C GRCh38
NC_000018.9:g.28986333A>C , CM000680.1:g.28986333A>C GRCh37
NC_000018.8:g.27240331A>C NCBI36
NG_013040.1:g.34594A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308128.9:c.1930A>C (DSG4) MANE Select ENSP00000311859.4:p.Ile644Leu
ENST00000308128.8:c.1930A>C (DSG4) ENSP00000311859.4:p.Ile644Leu
ENST00000359747.4:c.1930A>C (DSG4) ENSP00000352785.4:p.Ile644Leu
NM_001134453.1:c.1930A>C (DSG4) NP_001127925.1:p.Ile644Leu
NM_177986.3:c.1930A>C (DSG4) NP_817123.1:p.Ile644Leu
NR_110788.1:n.156+20463T>G (DSG1-AS1)
XM_011525827.1:c.532A>C (DSG4) XP_011524129.1:p.Ile178Leu
NM_001134453.2:c.1930A>C (DSG4) NP_001127925.1:p.Ile644Leu
NM_177986.4:c.1930A>C (DSG4) NP_817123.1:p.Ile644Leu
NM_177986.5:c.1930A>C (DSG4) MANE Select NP_817123.1:p.Ile644Leu
NM_001134453.3:c.1930A>C (DSG4) NP_001127925.1:p.Ile644Leu
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