Canonical Allele Identifier: CA4261986

Gene: DDC FIGNL1

Linked Data

• ClinVar Variation Id: 420592
• ClinVar RCV Id: RCV000483851 ; RCV001851192 ; RCV002526580
• dbSNP Id: rs770717871
• ExAC: 7:50531014 C / T
• gnomAD v2: 7-50531014-C-T
• gnomAD v3: 7-50463316-C-T
• gnomAD v4: 7-50463316-C-T
• MyVariant Identifiers: chr7:g.50531014C>T (hg19) ; chr7:g.50463316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50463316C>T , CM000669.2:g.50463316C>T	GRCh38
NC_000007.13:g.50531014C>T , CM000669.1:g.50531014C>T	GRCh37
NC_000007.12:g.50498508C>T	NCBI36
NG_008742.1:g.107141G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.1358G>A (DDC) MANE Select	ENSP00000403644.2:p.Arg453His
ENST00000357936.9:c.1358G>A (DDC)	ENSP00000350616.5:p.Arg453His
ENST00000426377.5:c.1124G>A (DDC)	ENSP00000395069.1:p.Arg375His
ENST00000430300.5:c.1000G>A (DDC)
ENST00000431062.5:c.1079G>A (DDC)	ENSP00000399184.1:p.Arg360His
ENST00000444124.6:c.1358G>A (DDC)	ENSP00000403644.2:p.Arg453His
ENST00000444733.5:c.*459G>A (DDC)	ENSP00000393724.1:n.*459G>A
ENST00000494914.1:n.514G>A (DDC)
ENST00000613602.3:c.-10-16019G>A (FIGNL1)	ENSP00000481751.1:n.-10-16019G>A
ENST00000615193.4:c.1079G>A (DDC)	ENSP00000484104.1:p.Arg360His
ENST00000617822.4:c.1214G>A (DDC)	ENSP00000478385.1:p.Arg405His
ENST00000622873.4:c.1244G>A (DDC)	ENSP00000479110.1:p.Arg415His
NM_000790.3:c.1358G>A (DDC)	NP_000781.1:p.Arg453His
NM_001082971.1:c.1358G>A (DDC)	NP_001076440.1:p.Arg453His
NM_001242886.1:c.1244G>A (DDC)	NP_001229815.1:p.Arg415His
NM_001242887.1:c.1214G>A (DDC)	NP_001229816.1:p.Arg405His
NM_001242888.1:c.1124G>A (DDC)	NP_001229817.1:p.Arg375His
NM_001242889.1:c.1079G>A (DDC)	NP_001229818.1:p.Arg360His
XM_005271745.3:c.1244G>A (DDC)	XP_005271802.1:p.Arg415His
XM_011515161.1:c.1007G>A (DDC)	XP_011513463.1:p.Arg336His
XM_005271745.4:c.1244G>A (DDC)	XP_005271802.1:p.Arg415His
XM_011515161.2:c.1301G>A (DDC)	XP_011513463.2:p.Arg434His
NM_001082971.2:c.1358G>A (DDC) MANE Select	NP_001076440.2:p.Arg453His
NM_000790.4:c.1358G>A (DDC)	NP_000781.2:p.Arg453His
NM_001242888.2:c.1124G>A (DDC)	NP_001229817.2:p.Arg375His
NM_001242886.2:c.1244G>A (DDC)	NP_001229815.2:p.Arg415His
NM_001242887.2:c.1214G>A (DDC)	NP_001229816.2:p.Arg405His
NM_001242889.2:c.1079G>A (DDC)	NP_001229818.2:p.Arg360His