Canonical Allele Identifier: CA367526689

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs1459906249
• gnomAD v3: 7-50529249-C-T
• gnomAD v4: 7-50529249-C-T
• COSMIC: COSM6366212 ; COSM6366213
• MyVariant Identifiers: chr7:g.50596947C>T (hg19) ; chr7:g.50529249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529249C>T , CM000669.2:g.50529249C>T	GRCh38
NC_000007.13:g.50596947C>T , CM000669.1:g.50596947C>T	GRCh37
NC_000007.12:g.50564441C>T	NCBI36
NG_008742.1:g.41208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.529G>A (DDC) MANE Select	ENSP00000403644.2:p.Ala177Thr
ENST00000357936.9:c.529G>A (DDC)	ENSP00000350616.5:p.Ala177Thr
ENST00000380984.4:c.529G>A (DDC)	ENSP00000370371.4:p.Ala177Thr
ENST00000426377.5:c.295G>A (DDC)	ENSP00000395069.1:p.Ala99Thr
ENST00000430300.5:c.213-969G>A (DDC)
ENST00000431062.5:c.435+8611G>A (DDC)	ENSP00000399184.1:n.435+8611G>A
ENST00000444124.6:c.529G>A (DDC)	ENSP00000403644.2:p.Ala177Thr
ENST00000444733.5:c.415G>A (DDC)	ENSP00000393724.1:p.Ala139Thr
ENST00000489162.1:n.328G>A (DDC)
ENST00000613602.3:c.-11+13269G>A (FIGNL1)	ENSP00000481751.1:n.-11+13269G>A
ENST00000615193.4:c.435+8611G>A (DDC)	ENSP00000484104.1:n.435+8611G>A
ENST00000617822.4:c.529G>A (DDC)	ENSP00000478385.1:p.Ala177Thr
ENST00000622873.4:c.415G>A (DDC)	ENSP00000479110.1:p.Ala139Thr
NM_000790.3:c.529G>A (DDC)	NP_000781.1:p.Ala177Thr
NM_001082971.1:c.529G>A (DDC)	NP_001076440.1:p.Ala177Thr
NM_001242886.1:c.415G>A (DDC)	NP_001229815.1:p.Ala139Thr
NM_001242887.1:c.529G>A (DDC)	NP_001229816.1:p.Ala177Thr
NM_001242888.1:c.295G>A (DDC)	NP_001229817.1:p.Ala99Thr
NM_001242889.1:c.435+8611G>A (DDC)	NP_001229818.1:n.435+8611G>A
NM_001242890.1:c.529G>A (DDC)	NP_001229819.1:p.Ala177Thr
XM_005271745.3:c.415G>A (DDC)	XP_005271802.1:p.Ala139Thr
XM_011515161.1:c.178G>A (DDC)	XP_011513463.1:p.Ala60Thr
XM_005271745.4:c.415G>A (DDC)	XP_005271802.1:p.Ala139Thr
XM_011515161.2:c.472G>A (DDC)	XP_011513463.2:p.Ala158Thr
NM_001082971.2:c.529G>A (DDC) MANE Select	NP_001076440.2:p.Ala177Thr
NM_000790.4:c.529G>A (DDC)	NP_000781.2:p.Ala177Thr
NM_001242888.2:c.295G>A (DDC)	NP_001229817.2:p.Ala99Thr
NM_001242890.2:c.529G>A (DDC)	NP_001229819.2:p.Ala177Thr
NM_001242886.2:c.415G>A (DDC)	NP_001229815.2:p.Ala139Thr
NM_001242887.2:c.529G>A (DDC)	NP_001229816.2:p.Ala177Thr
NM_001242889.2:c.435+8611G>A (DDC)	NP_001229818.2:n.435+8611G>A