Canonical Allele Identifier: CA174646

Gene: DPPA4

Linked Data

• ClinVar Variation Id: 161713
• ClinVar RCV Id: RCV000149249
• dbSNP Id: rs193920923
• gnomAD v4: 3-109327996-A-G
• COSMIC: COSM1180162
• MyVariant Identifiers: chr3:g.109046843A>G (hg19) ; chr3:g.109327996A>G (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.109327996A>G , CM000665.2:g.109327996A>G	GRCh38
NC_000003.11:g.109046843A>G , CM000665.1:g.109046843A>G	GRCh37
NC_000003.10:g.110529533A>G	NCBI36
NG_053021.1:g.14577T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000335658.7:c.907T>C MANE Select	ENSP00000335306.6:p.Trp303Arg
ENST00000335658.6:c.907T>C	ENSP00000335306.6:p.Trp303Arg
ENST00000463966.5:n.616T>C
ENST00000475135.1:n.1900T>C
NM_018189.3:c.907T>C	NP_060659.3:p.Trp303Arg
XM_011512954.1:c.751T>C	XP_011511256.1:p.Trp251Arg
NM_001348928.1:c.751T>C	NP_001335857.1:p.Trp251Arg
NM_001348929.1:c.*62T>C	NP_001335858.1:n.*62T>C
XM_011512954.3:c.751T>C	XP_011511256.1:p.Trp251Arg
XM_024453622.1:c.751T>C	XP_024309390.1:p.Trp251Arg
NM_001348928.2:c.751T>C	NP_001335857.1:p.Trp251Arg
NM_001348928.3:c.751T>C	NP_001335857.1:p.Trp251Arg
NM_001348929.2:c.*62T>C	NP_001335858.1:n.*62T>C
NM_018189.4:c.907T>C MANE Select	NP_060659.3:p.Trp303Arg