Canonical Allele Identifier: CA402143300

Gene: DSG4 DSG1-AS1

Linked Data

• dbSNP Id: rs4799570
• gnomAD v3: 18-31406370-A-T
• gnomAD v4: 18-31406370-A-T
• MyVariant Identifiers: chr18:g.28986333A>T (hg19) ; chr18:g.31406370A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308128.9:c.1930A>T (DSG4) MANE Select	ENSP00000311859.4:p.Ile644Phe
ENST00000308128.8:c.1930A>T (DSG4)	ENSP00000311859.4:p.Ile644Phe
ENST00000359747.4:c.1930A>T (DSG4)	ENSP00000352785.4:p.Ile644Phe
NM_001134453.1:c.1930A>T (DSG4)	NP_001127925.1:p.Ile644Phe
NM_177986.3:c.1930A>T (DSG4)	NP_817123.1:p.Ile644Phe
NR_110788.1:n.156+20463T>A (DSG1-AS1)
XM_011525827.1:c.532A>T (DSG4)	XP_011524129.1:p.Ile178Phe
NM_001134453.2:c.1930A>T (DSG4)	NP_001127925.1:p.Ile644Phe
NM_177986.4:c.1930A>T (DSG4)	NP_817123.1:p.Ile644Phe
NM_177986.5:c.1930A>T (DSG4) MANE Select	NP_817123.1:p.Ile644Phe
NM_001134453.3:c.1930A>T (DSG4)	NP_001127925.1:p.Ile644Phe