Canonical Allele Identifier: CA367533567

Gene: DDC FIGNL1

Linked Data

• ClinVar Variation Id: 2063686
• ClinVar RCV Id: RCV002923905
• gnomAD v4: 7-50470146-C-A
• COSMIC: COSM1090606
• MyVariant Identifiers: chr7:g.50537844C>A (hg19) ; chr7:g.50470146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50470146C>A , CM000669.2:g.50470146C>A	GRCh38
NC_000007.13:g.50537844C>A , CM000669.1:g.50537844C>A	GRCh37
NC_000007.12:g.50505338C>A	NCBI36
NG_008742.1:g.100311G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1067G>T (DDC) MANE Select	ENSP00000403644.2:p.Arg356Ile
ENST00000357936.9:c.1067G>T (DDC)	ENSP00000350616.5:p.Arg356Ile
ENST00000426377.5:c.833G>T (DDC)	ENSP00000395069.1:p.Arg278Ile
ENST00000430300.5:c.709G>T (DDC)
ENST00000431062.5:c.788G>T (DDC)	ENSP00000399184.1:p.Arg263Ile
ENST00000444124.6:c.1067G>T (DDC)	ENSP00000403644.2:p.Arg356Ile
ENST00000444733.5:c.*168G>T (DDC)	ENSP00000393724.1:n.*168G>T
ENST00000494914.1:n.223G>T (DDC)
ENST00000613602.3:c.-10-22849G>T (FIGNL1)	ENSP00000481751.1:n.-10-22849G>T
ENST00000615193.4:c.788G>T (DDC)	ENSP00000484104.1:p.Arg263Ile
ENST00000617822.4:c.923G>T (DDC)	ENSP00000478385.1:p.Arg308Ile
ENST00000622873.4:c.953G>T (DDC)	ENSP00000479110.1:p.Arg318Ile
NM_000790.3:c.1067G>T (DDC)	NP_000781.1:p.Arg356Ile
NM_001082971.1:c.1067G>T (DDC)	NP_001076440.1:p.Arg356Ile
NM_001242886.1:c.953G>T (DDC)	NP_001229815.1:p.Arg318Ile
NM_001242887.1:c.923G>T (DDC)	NP_001229816.1:p.Arg308Ile
NM_001242888.1:c.833G>T (DDC)	NP_001229817.1:p.Arg278Ile
NM_001242889.1:c.788G>T (DDC)	NP_001229818.1:p.Arg263Ile
XM_005271745.3:c.953G>T (DDC)	XP_005271802.1:p.Arg318Ile
XM_011515161.1:c.716G>T (DDC)	XP_011513463.1:p.Arg239Ile
XM_005271745.4:c.953G>T (DDC)	XP_005271802.1:p.Arg318Ile
XM_011515161.2:c.1010G>T (DDC)	XP_011513463.2:p.Arg337Ile
NM_001082971.2:c.1067G>T (DDC) MANE Select	NP_001076440.2:p.Arg356Ile
NM_000790.4:c.1067G>T (DDC)	NP_000781.2:p.Arg356Ile
NM_001242888.2:c.833G>T (DDC)	NP_001229817.2:p.Arg278Ile
NM_001242886.2:c.953G>T (DDC)	NP_001229815.2:p.Arg318Ile
NM_001242887.2:c.923G>T (DDC)	NP_001229816.2:p.Arg308Ile
NM_001242889.2:c.788G>T (DDC)	NP_001229818.2:p.Arg263Ile