Canonical Allele Identifier: CA8926726

Gene: DSG4 DSG1-AS1

Linked Data

• ClinVar Variation Id: 777289
• ClinVar RCV Id: RCV000957731 ; RCV001126778
• dbSNP Id: rs13381457
• ExAC: 18:28968924 G / A
• gnomAD v2: 18-28968924-G-A
• gnomAD v3: 18-31388961-G-A
• gnomAD v4: 18-31388961-G-A
• MyVariant Identifiers: chr18:g.28968924G>A (hg19) ; chr18:g.31388961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31388961G>A , CM000680.2:g.31388961G>A	GRCh38
NC_000018.9:g.28968924G>A , CM000680.1:g.28968924G>A	GRCh37
NC_000018.8:g.27222922G>A	NCBI36
NG_013040.1:g.17185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308128.9:c.460G>A (DSG4) MANE Select	ENSP00000311859.4:p.Ala154Thr
ENST00000308128.8:c.460G>A (DSG4)	ENSP00000311859.4:p.Ala154Thr
ENST00000359747.4:c.460G>A (DSG4)	ENSP00000352785.4:p.Ala154Thr
NM_001134453.1:c.460G>A (DSG4)	NP_001127925.1:p.Ala154Thr
NM_177986.3:c.460G>A (DSG4)	NP_817123.1:p.Ala154Thr
NR_110788.1:n.157-34508C>T (DSG1-AS1)
NM_001134453.2:c.460G>A (DSG4)	NP_001127925.1:p.Ala154Thr
NM_177986.4:c.460G>A (DSG4)	NP_817123.1:p.Ala154Thr
NM_177986.5:c.460G>A (DSG4) MANE Select	NP_817123.1:p.Ala154Thr
NM_001134453.3:c.460G>A (DSG4)	NP_001127925.1:p.Ala154Thr