Canonical Allele Identifier: CA839360644

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs1322949184
• gnomAD v3: 7-50475140-A-G
• gnomAD v4: 7-50475140-A-G
• MyVariant Identifiers: chr7:g.50542838A>G (hg19) ; chr7:g.50475140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50475140A>G , CM000669.2:g.50475140A>G	GRCh38
NC_000007.13:g.50542838A>G , CM000669.1:g.50542838A>G	GRCh37
NC_000007.12:g.50510332A>G	NCBI36
NG_008742.1:g.95317T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1041+1484T>C (DDC) MANE Select	ENSP00000403644.2:n.1041+1484T>C
ENST00000357936.9:c.1041+1484T>C (DDC)	ENSP00000350616.5:n.1041+1484T>C
ENST00000426377.5:c.807+1484T>C (DDC)	ENSP00000395069.1:n.807+1484T>C
ENST00000430300.5:c.683+1484T>C (DDC)
ENST00000431062.5:c.762+1484T>C (DDC)	ENSP00000399184.1:n.762+1484T>C
ENST00000444124.6:c.1041+1484T>C (DDC)	ENSP00000403644.2:n.1041+1484T>C
ENST00000444733.5:c.*142+1484T>C (DDC)	ENSP00000393724.1:n.*142+1484T>C
ENST00000494914.1:n.197+1484T>C (DDC)
ENST00000613602.3:c.-10-27843T>C (FIGNL1)	ENSP00000481751.1:n.-10-27843T>C
ENST00000615193.4:c.762+1484T>C (DDC)	ENSP00000484104.1:n.762+1484T>C
ENST00000617822.4:c.897+1484T>C (DDC)	ENSP00000478385.1:n.897+1484T>C
ENST00000622873.4:c.927+1484T>C (DDC)	ENSP00000479110.1:n.927+1484T>C
NM_000790.3:c.1041+1484T>C (DDC)	NP_000781.1:n.1041+1484T>C
NM_001082971.1:c.1041+1484T>C (DDC)	NP_001076440.1:n.1041+1484T>C
NM_001242886.1:c.927+1484T>C (DDC)	NP_001229815.1:n.927+1484T>C
NM_001242887.1:c.897+1484T>C (DDC)	NP_001229816.1:n.897+1484T>C
NM_001242888.1:c.807+1484T>C (DDC)	NP_001229817.1:n.807+1484T>C
NM_001242889.1:c.762+1484T>C (DDC)	NP_001229818.1:n.762+1484T>C
XM_005271745.3:c.927+1484T>C (DDC)	XP_005271802.1:n.927+1484T>C
XM_011515161.1:c.690+1484T>C (DDC)	XP_011513463.1:n.690+1484T>C
XM_005271745.4:c.927+1484T>C (DDC)	XP_005271802.1:n.927+1484T>C
XM_011515161.2:c.984+1484T>C (DDC)	XP_011513463.2:n.984+1484T>C
NM_001082971.2:c.1041+1484T>C (DDC) MANE Select	NP_001076440.2:n.1041+1484T>C
NM_000790.4:c.1041+1484T>C (DDC)	NP_000781.2:n.1041+1484T>C
NM_001242888.2:c.807+1484T>C (DDC)	NP_001229817.2:n.807+1484T>C
NM_001242886.2:c.927+1484T>C (DDC)	NP_001229815.2:n.927+1484T>C
NM_001242887.2:c.897+1484T>C (DDC)	NP_001229816.2:n.897+1484T>C
NM_001242889.2:c.762+1484T>C (DDC)	NP_001229818.2:n.762+1484T>C