Canonical Allele Identifier: CA4262362

Gene: DDC FIGNL1

Linked Data

• ClinVar Variation Id: 750485
• ClinVar RCV Id: RCV002066064
• dbSNP Id: rs200657003
• ExAC: 7:50597019 G / A
• gnomAD v2: 7-50597019-G-A
• gnomAD v3: 7-50529321-G-A
• gnomAD v4: 7-50529321-G-A
• MyVariant Identifiers: chr7:g.50597019G>A (hg19) ; chr7:g.50529321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50529321G>A , CM000669.2:g.50529321G>A	GRCh38
NC_000007.13:g.50597019G>A , CM000669.1:g.50597019G>A	GRCh37
NC_000007.12:g.50564513G>A	NCBI36
NG_008742.1:g.41136C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.457C>T (DDC) MANE Select	ENSP00000403644.2:p.Leu153=
ENST00000357936.9:c.457C>T (DDC)	ENSP00000350616.5:p.Leu153=
ENST00000380984.4:c.457C>T (DDC)	ENSP00000370371.4:p.Leu153=
ENST00000426377.5:c.223C>T (DDC)	ENSP00000395069.1:p.Leu75=
ENST00000430300.5:c.213-1041C>T (DDC)
ENST00000431062.5:c.435+8539C>T (DDC)	ENSP00000399184.1:n.435+8539C>T
ENST00000444124.6:c.457C>T (DDC)	ENSP00000403644.2:p.Leu153=
ENST00000444733.5:c.343C>T (DDC)	ENSP00000393724.1:p.Leu115=
ENST00000489162.1:n.256C>T (DDC)
ENST00000613602.3:c.-11+13197C>T (FIGNL1)	ENSP00000481751.1:n.-11+13197C>T
ENST00000615193.4:c.435+8539C>T (DDC)	ENSP00000484104.1:n.435+8539C>T
ENST00000617822.4:c.457C>T (DDC)	ENSP00000478385.1:p.Leu153=
ENST00000622873.4:c.343C>T (DDC)	ENSP00000479110.1:p.Leu115=
NM_000790.3:c.457C>T (DDC)	NP_000781.1:p.Leu153=
NM_001082971.1:c.457C>T (DDC)	NP_001076440.1:p.Leu153=
NM_001242886.1:c.343C>T (DDC)	NP_001229815.1:p.Leu115=
NM_001242887.1:c.457C>T (DDC)	NP_001229816.1:p.Leu153=
NM_001242888.1:c.223C>T (DDC)	NP_001229817.1:p.Leu75=
NM_001242889.1:c.435+8539C>T (DDC)	NP_001229818.1:n.435+8539C>T
NM_001242890.1:c.457C>T (DDC)	NP_001229819.1:p.Leu153=
XM_005271745.3:c.343C>T (DDC)	XP_005271802.1:p.Leu115=
XM_011515161.1:c.106C>T (DDC)	XP_011513463.1:p.Leu36=
XM_005271745.4:c.343C>T (DDC)	XP_005271802.1:p.Leu115=
XM_011515161.2:c.400C>T (DDC)	XP_011513463.2:p.Leu134=
NM_001082971.2:c.457C>T (DDC) MANE Select	NP_001076440.2:p.Leu153=
NM_000790.4:c.457C>T (DDC)	NP_000781.2:p.Leu153=
NM_001242888.2:c.223C>T (DDC)	NP_001229817.2:p.Leu75=
NM_001242890.2:c.457C>T (DDC)	NP_001229819.2:p.Leu153=
NM_001242886.2:c.343C>T (DDC)	NP_001229815.2:p.Leu115=
NM_001242887.2:c.457C>T (DDC)	NP_001229816.2:p.Leu153=
NM_001242889.2:c.435+8539C>T (DDC)	NP_001229818.2:n.435+8539C>T