Canonical Allele Identifier: CA367538057

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs2043105584
• gnomAD v4: 7-50495365-T-C
• MyVariant Identifiers: chr7:g.50563063T>C (hg19) ; chr7:g.50495365T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50495365T>C , CM000669.2:g.50495365T>C	GRCh38
NC_000007.13:g.50563063T>C , CM000669.1:g.50563063T>C	GRCh37
NC_000007.12:g.50530557T>C	NCBI36
NG_008742.1:g.75092A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.929A>G (DDC) MANE Select	ENSP00000403644.2:p.Asp310Gly
ENST00000357936.9:c.929A>G (DDC)	ENSP00000350616.5:p.Asp310Gly
ENST00000380984.4:c.929A>G (DDC)	ENSP00000370371.4:p.Asp310Gly
ENST00000426377.5:c.695A>G (DDC)	ENSP00000395069.1:p.Asp232Gly
ENST00000430300.5:c.571A>G (DDC)
ENST00000431062.5:c.650A>G (DDC)	ENSP00000399184.1:p.Asp217Gly
ENST00000444124.6:c.929A>G (DDC)	ENSP00000403644.2:p.Asp310Gly
ENST00000444733.5:c.*30A>G (DDC)	ENSP00000393724.1:n.*30A>G
ENST00000613602.3:c.-11+47153A>G (FIGNL1)	ENSP00000481751.1:n.-11+47153A>G
ENST00000615193.4:c.650A>G (DDC)	ENSP00000484104.1:p.Asp217Gly
ENST00000617822.4:c.785A>G (DDC)	ENSP00000478385.1:p.Asp262Gly
ENST00000622873.4:c.815A>G (DDC)	ENSP00000479110.1:p.Asp272Gly
NM_000790.3:c.929A>G (DDC)	NP_000781.1:p.Asp310Gly
NM_001082971.1:c.929A>G (DDC)	NP_001076440.1:p.Asp310Gly
NM_001242886.1:c.815A>G (DDC)	NP_001229815.1:p.Asp272Gly
NM_001242887.1:c.785A>G (DDC)	NP_001229816.1:p.Asp262Gly
NM_001242888.1:c.695A>G (DDC)	NP_001229817.1:p.Asp232Gly
NM_001242889.1:c.650A>G (DDC)	NP_001229818.1:p.Asp217Gly
NM_001242890.1:c.929A>G (DDC)	NP_001229819.1:p.Asp310Gly
XM_005271745.3:c.815A>G (DDC)	XP_005271802.1:p.Asp272Gly
XM_011515161.1:c.578A>G (DDC)	XP_011513463.1:p.Asp193Gly
XM_005271745.4:c.815A>G (DDC)	XP_005271802.1:p.Asp272Gly
XM_011515161.2:c.872A>G (DDC)	XP_011513463.2:p.Asp291Gly
NM_001082971.2:c.929A>G (DDC) MANE Select	NP_001076440.2:p.Asp310Gly
NM_000790.4:c.929A>G (DDC)	NP_000781.2:p.Asp310Gly
NM_001242888.2:c.695A>G (DDC)	NP_001229817.2:p.Asp232Gly
NM_001242890.2:c.929A>G (DDC)	NP_001229819.2:p.Asp310Gly
NM_001242886.2:c.815A>G (DDC)	NP_001229815.2:p.Asp272Gly
NM_001242887.2:c.785A>G (DDC)	NP_001229816.2:p.Asp262Gly
NM_001242889.2:c.650A>G (DDC)	NP_001229818.2:p.Asp217Gly