Canonical Allele Identifier: CA158225192

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs76213345
• gnomAD v2: 7-50542803-A-C
• gnomAD v3: 7-50475105-A-C
• gnomAD v4: 7-50475105-A-C
• MyVariant Identifiers: chr7:g.50542803A>C (hg19) ; chr7:g.50475105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50475105A>C , CM000669.2:g.50475105A>C	GRCh38
NC_000007.13:g.50542803A>C , CM000669.1:g.50542803A>C	GRCh37
NC_000007.12:g.50510297A>C	NCBI36
NG_008742.1:g.95352T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.1041+1519T>G (DDC) MANE Select	ENSP00000403644.2:n.1041+1519T>G
ENST00000357936.9:c.1041+1519T>G (DDC)	ENSP00000350616.5:n.1041+1519T>G
ENST00000426377.5:c.807+1519T>G (DDC)	ENSP00000395069.1:n.807+1519T>G
ENST00000430300.5:c.683+1519T>G (DDC)
ENST00000431062.5:c.762+1519T>G (DDC)	ENSP00000399184.1:n.762+1519T>G
ENST00000444124.6:c.1041+1519T>G (DDC)	ENSP00000403644.2:n.1041+1519T>G
ENST00000444733.5:c.*142+1519T>G (DDC)	ENSP00000393724.1:n.*142+1519T>G
ENST00000494914.1:n.197+1519T>G (DDC)
ENST00000613602.3:c.-10-27808T>G (FIGNL1)	ENSP00000481751.1:n.-10-27808T>G
ENST00000615193.4:c.762+1519T>G (DDC)	ENSP00000484104.1:n.762+1519T>G
ENST00000617822.4:c.897+1519T>G (DDC)	ENSP00000478385.1:n.897+1519T>G
ENST00000622873.4:c.927+1519T>G (DDC)	ENSP00000479110.1:n.927+1519T>G
NM_000790.3:c.1041+1519T>G (DDC)	NP_000781.1:n.1041+1519T>G
NM_001082971.1:c.1041+1519T>G (DDC)	NP_001076440.1:n.1041+1519T>G
NM_001242886.1:c.927+1519T>G (DDC)	NP_001229815.1:n.927+1519T>G
NM_001242887.1:c.897+1519T>G (DDC)	NP_001229816.1:n.897+1519T>G
NM_001242888.1:c.807+1519T>G (DDC)	NP_001229817.1:n.807+1519T>G
NM_001242889.1:c.762+1519T>G (DDC)	NP_001229818.1:n.762+1519T>G
XM_005271745.3:c.927+1519T>G (DDC)	XP_005271802.1:n.927+1519T>G
XM_011515161.1:c.690+1519T>G (DDC)	XP_011513463.1:n.690+1519T>G
XM_005271745.4:c.927+1519T>G (DDC)	XP_005271802.1:n.927+1519T>G
XM_011515161.2:c.984+1519T>G (DDC)	XP_011513463.2:n.984+1519T>G
NM_001082971.2:c.1041+1519T>G (DDC) MANE Select	NP_001076440.2:n.1041+1519T>G
NM_000790.4:c.1041+1519T>G (DDC)	NP_000781.2:n.1041+1519T>G
NM_001242888.2:c.807+1519T>G (DDC)	NP_001229817.2:n.807+1519T>G
NM_001242886.2:c.927+1519T>G (DDC)	NP_001229815.2:n.927+1519T>G
NM_001242887.2:c.897+1519T>G (DDC)	NP_001229816.2:n.897+1519T>G
NM_001242889.2:c.762+1519T>G (DDC)	NP_001229818.2:n.762+1519T>G