Canonical Allele Identifier: CA367534739

Gene: DDC FIGNL1

Linked Data

• MyVariant Identifiers: chr7:g.50544330C>G (hg19) ; chr7:g.50476632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50476632C>G , CM000669.2:g.50476632C>G	GRCh38
NC_000007.13:g.50544330C>G , CM000669.1:g.50544330C>G	GRCh37
NC_000007.12:g.50511824C>G	NCBI36
NG_008742.1:g.93825G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1033G>C (DDC) MANE Select	ENSP00000403644.2:p.Asp345His
ENST00000357936.9:c.1033G>C (DDC)	ENSP00000350616.5:p.Asp345His
ENST00000426377.5:c.799G>C (DDC)	ENSP00000395069.1:p.Asp267His
ENST00000430300.5:c.675G>C (DDC)
ENST00000431062.5:c.754G>C (DDC)	ENSP00000399184.1:p.Asp252His
ENST00000444124.6:c.1033G>C (DDC)	ENSP00000403644.2:p.Asp345His
ENST00000444733.5:c.*134G>C (DDC)	ENSP00000393724.1:n.*134G>C
ENST00000494914.1:n.189G>C (DDC)
ENST00000613602.3:c.-10-29335G>C (FIGNL1)	ENSP00000481751.1:n.-10-29335G>C
ENST00000615193.4:c.754G>C (DDC)	ENSP00000484104.1:p.Asp252His
ENST00000617822.4:c.889G>C (DDC)	ENSP00000478385.1:p.Asp297His
ENST00000622873.4:c.919G>C (DDC)	ENSP00000479110.1:p.Asp307His
NM_000790.3:c.1033G>C (DDC)	NP_000781.1:p.Asp345His
NM_001082971.1:c.1033G>C (DDC)	NP_001076440.1:p.Asp345His
NM_001242886.1:c.919G>C (DDC)	NP_001229815.1:p.Asp307His
NM_001242887.1:c.889G>C (DDC)	NP_001229816.1:p.Asp297His
NM_001242888.1:c.799G>C (DDC)	NP_001229817.1:p.Asp267His
NM_001242889.1:c.754G>C (DDC)	NP_001229818.1:p.Asp252His
XM_005271745.3:c.919G>C (DDC)	XP_005271802.1:p.Asp307His
XM_011515161.1:c.682G>C (DDC)	XP_011513463.1:p.Asp228His
XM_005271745.4:c.919G>C (DDC)	XP_005271802.1:p.Asp307His
XM_011515161.2:c.976G>C (DDC)	XP_011513463.2:p.Asp326His
NM_001082971.2:c.1033G>C (DDC) MANE Select	NP_001076440.2:p.Asp345His
NM_000790.4:c.1033G>C (DDC)	NP_000781.2:p.Asp345His
NM_001242888.2:c.799G>C (DDC)	NP_001229817.2:p.Asp267His
NM_001242886.2:c.919G>C (DDC)	NP_001229815.2:p.Asp307His
NM_001242887.2:c.889G>C (DDC)	NP_001229816.2:p.Asp297His
NM_001242889.2:c.754G>C (DDC)	NP_001229818.2:p.Asp252His