Canonical Allele Identifier: CA367534755

Gene: DDC FIGNL1

Linked Data

• ClinVar Variation Id: 1982732
• ClinVar RCV Id: RCV002785574
• dbSNP Id: rs1262571160
• gnomAD v2: 7-50544335-A-G
• gnomAD v4: 7-50476637-A-G
• MyVariant Identifiers: chr7:g.50544335A>G (hg19) ; chr7:g.50476637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50476637A>G , CM000669.2:g.50476637A>G	GRCh38
NC_000007.13:g.50544335A>G , CM000669.1:g.50544335A>G	GRCh37
NC_000007.12:g.50511829A>G	NCBI36
NG_008742.1:g.93820T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1028T>C (DDC) MANE Select	ENSP00000403644.2:p.Ile343Thr
ENST00000357936.9:c.1028T>C (DDC)	ENSP00000350616.5:p.Ile343Thr
ENST00000426377.5:c.794T>C (DDC)	ENSP00000395069.1:p.Ile265Thr
ENST00000430300.5:c.670T>C (DDC)
ENST00000431062.5:c.749T>C (DDC)	ENSP00000399184.1:p.Ile250Thr
ENST00000444124.6:c.1028T>C (DDC)	ENSP00000403644.2:p.Ile343Thr
ENST00000444733.5:c.*129T>C (DDC)	ENSP00000393724.1:n.*129T>C
ENST00000494914.1:n.184T>C (DDC)
ENST00000613602.3:c.-10-29340T>C (FIGNL1)	ENSP00000481751.1:n.-10-29340T>C
ENST00000615193.4:c.749T>C (DDC)	ENSP00000484104.1:p.Ile250Thr
ENST00000617822.4:c.884T>C (DDC)	ENSP00000478385.1:p.Ile295Thr
ENST00000622873.4:c.914T>C (DDC)	ENSP00000479110.1:p.Ile305Thr
NM_000790.3:c.1028T>C (DDC)	NP_000781.1:p.Ile343Thr
NM_001082971.1:c.1028T>C (DDC)	NP_001076440.1:p.Ile343Thr
NM_001242886.1:c.914T>C (DDC)	NP_001229815.1:p.Ile305Thr
NM_001242887.1:c.884T>C (DDC)	NP_001229816.1:p.Ile295Thr
NM_001242888.1:c.794T>C (DDC)	NP_001229817.1:p.Ile265Thr
NM_001242889.1:c.749T>C (DDC)	NP_001229818.1:p.Ile250Thr
XM_005271745.3:c.914T>C (DDC)	XP_005271802.1:p.Ile305Thr
XM_011515161.1:c.677T>C (DDC)	XP_011513463.1:p.Ile226Thr
XM_005271745.4:c.914T>C (DDC)	XP_005271802.1:p.Ile305Thr
XM_011515161.2:c.971T>C (DDC)	XP_011513463.2:p.Ile324Thr
NM_001082971.2:c.1028T>C (DDC) MANE Select	NP_001076440.2:p.Ile343Thr
NM_000790.4:c.1028T>C (DDC)	NP_000781.2:p.Ile343Thr
NM_001242888.2:c.794T>C (DDC)	NP_001229817.2:p.Ile265Thr
NM_001242886.2:c.914T>C (DDC)	NP_001229815.2:p.Ile305Thr
NM_001242887.2:c.884T>C (DDC)	NP_001229816.2:p.Ile295Thr
NM_001242889.2:c.749T>C (DDC)	NP_001229818.2:p.Ile250Thr