Canonical Allele Identifier: CA4262343

Gene: DDC FIGNL1

Linked Data

• ClinVar Variation Id: 739292
• ClinVar RCV Id: RCV001499265 ; RCV003424469
• dbSNP Id: rs548757623
• ExAC: 7:50596945 G / A
• gnomAD v2: 7-50596945-G-A
• gnomAD v3: 7-50529247-G-A
• gnomAD v4: 7-50529247-G-A
• COSMIC: COSM4139351 ; COSM4139352
• MyVariant Identifiers: chr7:g.50596945G>A (hg19) ; chr7:g.50529247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529247G>A , CM000669.2:g.50529247G>A	GRCh38
NC_000007.13:g.50596945G>A , CM000669.1:g.50596945G>A	GRCh37
NC_000007.12:g.50564439G>A	NCBI36
NG_008742.1:g.41210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.531C>T (DDC) MANE Select	ENSP00000403644.2:p.Ala177=
ENST00000357936.9:c.531C>T (DDC)	ENSP00000350616.5:p.Ala177=
ENST00000380984.4:c.531C>T (DDC)	ENSP00000370371.4:p.Ala177=
ENST00000426377.5:c.297C>T (DDC)	ENSP00000395069.1:p.Ala99=
ENST00000430300.5:c.213-967C>T (DDC)
ENST00000431062.5:c.435+8613C>T (DDC)	ENSP00000399184.1:n.435+8613C>T
ENST00000444124.6:c.531C>T (DDC)	ENSP00000403644.2:p.Ala177=
ENST00000444733.5:c.417C>T (DDC)	ENSP00000393724.1:p.Ala139=
ENST00000489162.1:n.330C>T (DDC)
ENST00000613602.3:c.-11+13271C>T (FIGNL1)	ENSP00000481751.1:n.-11+13271C>T
ENST00000615193.4:c.435+8613C>T (DDC)	ENSP00000484104.1:n.435+8613C>T
ENST00000617822.4:c.531C>T (DDC)	ENSP00000478385.1:p.Ala177=
ENST00000622873.4:c.417C>T (DDC)	ENSP00000479110.1:p.Ala139=
NM_000790.3:c.531C>T (DDC)	NP_000781.1:p.Ala177=
NM_001082971.1:c.531C>T (DDC)	NP_001076440.1:p.Ala177=
NM_001242886.1:c.417C>T (DDC)	NP_001229815.1:p.Ala139=
NM_001242887.1:c.531C>T (DDC)	NP_001229816.1:p.Ala177=
NM_001242888.1:c.297C>T (DDC)	NP_001229817.1:p.Ala99=
NM_001242889.1:c.435+8613C>T (DDC)	NP_001229818.1:n.435+8613C>T
NM_001242890.1:c.531C>T (DDC)	NP_001229819.1:p.Ala177=
XM_005271745.3:c.417C>T (DDC)	XP_005271802.1:p.Ala139=
XM_011515161.1:c.180C>T (DDC)	XP_011513463.1:p.Ala60=
XM_005271745.4:c.417C>T (DDC)	XP_005271802.1:p.Ala139=
XM_011515161.2:c.474C>T (DDC)	XP_011513463.2:p.Ala158=
NM_001082971.2:c.531C>T (DDC) MANE Select	NP_001076440.2:p.Ala177=
NM_000790.4:c.531C>T (DDC)	NP_000781.2:p.Ala177=
NM_001242888.2:c.297C>T (DDC)	NP_001229817.2:p.Ala99=
NM_001242890.2:c.531C>T (DDC)	NP_001229819.2:p.Ala177=
NM_001242886.2:c.417C>T (DDC)	NP_001229815.2:p.Ala139=
NM_001242887.2:c.531C>T (DDC)	NP_001229816.2:p.Ala177=
NM_001242889.2:c.435+8613C>T (DDC)	NP_001229818.2:n.435+8613C>T