Canonical Allele Identifier: CA367529549

Gene: DDC FIGNL1 DDC-AS1

Linked Data

• ClinVar Variation Id: 2110541
• ClinVar RCV Id: RCV003042403
• dbSNP Id: rs1336467849
• gnomAD v2: 7-50607636-T-C
• gnomAD v4: 7-50539938-T-C
• MyVariant Identifiers: chr7:g.50607636T>C (hg19) ; chr7:g.50539938T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50539938T>C , CM000669.2:g.50539938T>C	GRCh38
NC_000007.13:g.50607636T>C , CM000669.1:g.50607636T>C	GRCh37
NC_000007.12:g.50575130T>C	NCBI36
NG_008742.1:g.30519A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.292A>G (DDC) MANE Select	ENSP00000403644.2:p.Ile98Val
ENST00000357936.9:c.292A>G (DDC)	ENSP00000350616.5:p.Ile98Val
ENST00000380984.4:c.292A>G (DDC)	ENSP00000370371.4:p.Ile98Val
ENST00000426377.5:c.201+3947A>G (DDC)	ENSP00000395069.1:n.201+3947A>G
ENST00000430300.5:c.189A>G (DDC)
ENST00000431062.5:c.292A>G (DDC)	ENSP00000399184.1:p.Ile98Val
ENST00000444124.6:c.292A>G (DDC)	ENSP00000403644.2:p.Ile98Val
ENST00000444733.5:c.202-1959A>G (DDC)	ENSP00000393724.1:n.202-1959A>G
ENST00000489162.1:n.91A>G (DDC)
ENST00000613602.3:c.-11+2580A>G (FIGNL1)	ENSP00000481751.1:n.-11+2580A>G
ENST00000615193.4:c.292A>G (DDC)	ENSP00000484104.1:p.Ile98Val
ENST00000617822.4:c.292A>G (DDC)	ENSP00000478385.1:p.Ile98Val
ENST00000622873.4:c.202-1959A>G (DDC)	ENSP00000479110.1:n.202-1959A>G
NM_000790.3:c.292A>G (DDC)	NP_000781.1:p.Ile98Val
NM_001082971.1:c.292A>G (DDC)	NP_001076440.1:p.Ile98Val
NM_001242886.1:c.202-1959A>G (DDC)	NP_001229815.1:n.202-1959A>G
NM_001242887.1:c.292A>G (DDC)	NP_001229816.1:p.Ile98Val
NM_001242888.1:c.201+3947A>G (DDC)	NP_001229817.1:n.201+3947A>G
NM_001242889.1:c.292A>G (DDC)	NP_001229818.1:p.Ile98Val
NM_001242890.1:c.292A>G (DDC)	NP_001229819.1:p.Ile98Val
NR_033845.1:n.286T>C (DDC-AS1)
XM_005271745.3:c.202-1959A>G (DDC)	XP_005271802.1:n.202-1959A>G
XM_005271745.4:c.202-1959A>G (DDC)	XP_005271802.1:n.202-1959A>G
NM_001082971.2:c.292A>G (DDC) MANE Select	NP_001076440.2:p.Ile98Val
NM_000790.4:c.292A>G (DDC)	NP_000781.2:p.Ile98Val
NM_001242888.2:c.201+3947A>G (DDC)	NP_001229817.2:n.201+3947A>G
NM_001242890.2:c.292A>G (DDC)	NP_001229819.2:p.Ile98Val
NM_001242886.2:c.202-1959A>G (DDC)	NP_001229815.2:n.202-1959A>G
NM_001242887.2:c.292A>G (DDC)	NP_001229816.2:p.Ile98Val
NM_001242889.2:c.292A>G (DDC)	NP_001229818.2:p.Ile98Val