Canonical Allele Identifier: CA2682812082

Gene: DDC FIGNL1

Linked Data

• gnomAD v4: 7-50495233-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50495233G>T , CM000669.2:g.50495233G>T	GRCh38
NC_000007.13:g.50562931G>T , CM000669.1:g.50562931G>T	GRCh37
NC_000007.12:g.50530425G>T	NCBI36
NG_008742.1:g.75224C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.944+117C>A (DDC) MANE Select	ENSP00000403644.2:n.944+117C>A
ENST00000357936.9:c.944+117C>A (DDC)	ENSP00000350616.5:n.944+117C>A
ENST00000380984.4:c.944+117C>A (DDC)	ENSP00000370371.4:n.944+117C>A
ENST00000426377.5:c.710+117C>A (DDC)	ENSP00000395069.1:n.710+117C>A
ENST00000430300.5:c.586+117C>A (DDC)
ENST00000431062.5:c.665+117C>A (DDC)	ENSP00000399184.1:n.665+117C>A
ENST00000444124.6:c.944+117C>A (DDC)	ENSP00000403644.2:n.944+117C>A
ENST00000444733.5:c.*45+117C>A (DDC)	ENSP00000393724.1:n.*45+117C>A
ENST00000613602.3:c.-11+47285C>A (FIGNL1)	ENSP00000481751.1:n.-11+47285C>A
ENST00000615193.4:c.665+117C>A (DDC)	ENSP00000484104.1:n.665+117C>A
ENST00000617822.4:c.800+117C>A (DDC)	ENSP00000478385.1:n.800+117C>A
ENST00000622873.4:c.830+117C>A (DDC)	ENSP00000479110.1:n.830+117C>A
NM_000790.3:c.944+117C>A (DDC)	NP_000781.1:n.944+117C>A
NM_001082971.1:c.944+117C>A (DDC)	NP_001076440.1:n.944+117C>A
NM_001242886.1:c.830+117C>A (DDC)	NP_001229815.1:n.830+117C>A
NM_001242887.1:c.800+117C>A (DDC)	NP_001229816.1:n.800+117C>A
NM_001242888.1:c.710+117C>A (DDC)	NP_001229817.1:n.710+117C>A
NM_001242889.1:c.665+117C>A (DDC)	NP_001229818.1:n.665+117C>A
NM_001242890.1:c.944+117C>A (DDC)	NP_001229819.1:n.944+117C>A
XM_005271745.3:c.830+117C>A (DDC)	XP_005271802.1:n.830+117C>A
XM_011515161.1:c.593+117C>A (DDC)	XP_011513463.1:n.593+117C>A
XM_005271745.4:c.830+117C>A (DDC)	XP_005271802.1:n.830+117C>A
XM_011515161.2:c.887+117C>A (DDC)	XP_011513463.2:n.887+117C>A
NM_001082971.2:c.944+117C>A (DDC) MANE Select	NP_001076440.2:n.944+117C>A
NM_000790.4:c.944+117C>A (DDC)	NP_000781.2:n.944+117C>A
NM_001242888.2:c.710+117C>A (DDC)	NP_001229817.2:n.710+117C>A
NM_001242890.2:c.944+117C>A (DDC)	NP_001229819.2:n.944+117C>A
NM_001242886.2:c.830+117C>A (DDC)	NP_001229815.2:n.830+117C>A
NM_001242887.2:c.800+117C>A (DDC)	NP_001229816.2:n.800+117C>A
NM_001242889.2:c.665+117C>A (DDC)	NP_001229818.2:n.665+117C>A