Canonical Allele Identifier: CA367533551

Gene: DDC FIGNL1

Linked Data

• gnomAD v4: 7-50470145-T-G
• MyVariant Identifiers: chr7:g.50537843T>G (hg19) ; chr7:g.50470145T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50470145T>G , CM000669.2:g.50470145T>G	GRCh38
NC_000007.13:g.50537843T>G , CM000669.1:g.50537843T>G	GRCh37
NC_000007.12:g.50505337T>G	NCBI36
NG_008742.1:g.100312A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1068A>C (DDC) MANE Select	ENSP00000403644.2:p.Arg356Ser
ENST00000357936.9:c.1068A>C (DDC)	ENSP00000350616.5:p.Arg356Ser
ENST00000426377.5:c.834A>C (DDC)	ENSP00000395069.1:p.Arg278Ser
ENST00000430300.5:c.710A>C (DDC)
ENST00000431062.5:c.789A>C (DDC)	ENSP00000399184.1:p.Arg263Ser
ENST00000444124.6:c.1068A>C (DDC)	ENSP00000403644.2:p.Arg356Ser
ENST00000444733.5:c.*169A>C (DDC)	ENSP00000393724.1:n.*169A>C
ENST00000494914.1:n.224A>C (DDC)
ENST00000613602.3:c.-10-22848A>C (FIGNL1)	ENSP00000481751.1:n.-10-22848A>C
ENST00000615193.4:c.789A>C (DDC)	ENSP00000484104.1:p.Arg263Ser
ENST00000617822.4:c.924A>C (DDC)	ENSP00000478385.1:p.Arg308Ser
ENST00000622873.4:c.954A>C (DDC)	ENSP00000479110.1:p.Arg318Ser
NM_000790.3:c.1068A>C (DDC)	NP_000781.1:p.Arg356Ser
NM_001082971.1:c.1068A>C (DDC)	NP_001076440.1:p.Arg356Ser
NM_001242886.1:c.954A>C (DDC)	NP_001229815.1:p.Arg318Ser
NM_001242887.1:c.924A>C (DDC)	NP_001229816.1:p.Arg308Ser
NM_001242888.1:c.834A>C (DDC)	NP_001229817.1:p.Arg278Ser
NM_001242889.1:c.789A>C (DDC)	NP_001229818.1:p.Arg263Ser
XM_005271745.3:c.954A>C (DDC)	XP_005271802.1:p.Arg318Ser
XM_011515161.1:c.717A>C (DDC)	XP_011513463.1:p.Arg239Ser
XM_005271745.4:c.954A>C (DDC)	XP_005271802.1:p.Arg318Ser
XM_011515161.2:c.1011A>C (DDC)	XP_011513463.2:p.Arg337Ser
NM_001082971.2:c.1068A>C (DDC) MANE Select	NP_001076440.2:p.Arg356Ser
NM_000790.4:c.1068A>C (DDC)	NP_000781.2:p.Arg356Ser
NM_001242888.2:c.834A>C (DDC)	NP_001229817.2:p.Arg278Ser
NM_001242886.2:c.954A>C (DDC)	NP_001229815.2:p.Arg318Ser
NM_001242887.2:c.924A>C (DDC)	NP_001229816.2:p.Arg308Ser
NM_001242889.2:c.789A>C (DDC)	NP_001229818.2:p.Arg263Ser