Canonical Allele Identifier: CA454934986

Gene: DDC FIGNL1

Linked Data

• gnomAD v4: 7-50495376-C-T
• MyVariant Identifiers: chr7:g.50563074C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50495376C>T , CM000669.2:g.50495376C>T	GRCh38
NC_000007.13:g.50563074C>T , CM000669.1:g.50563074C>T	GRCh37
NC_000007.12:g.50530568C>T	NCBI36
NG_008742.1:g.75081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.918G>A (DDC) MANE Select	ENSP00000403644.2:p.Leu306=
ENST00000357936.9:c.918G>A (DDC)	ENSP00000350616.5:p.Leu306=
ENST00000380984.4:c.918G>A (DDC)	ENSP00000370371.4:p.Leu306=
ENST00000426377.5:c.684G>A (DDC)	ENSP00000395069.1:p.Leu228=
ENST00000430300.5:c.560G>A (DDC)
ENST00000431062.5:c.639G>A (DDC)	ENSP00000399184.1:p.Leu213=
ENST00000444124.6:c.918G>A (DDC)	ENSP00000403644.2:p.Leu306=
ENST00000444733.5:c.*19G>A (DDC)	ENSP00000393724.1:n.*19G>A
ENST00000613602.3:c.-11+47142G>A (FIGNL1)	ENSP00000481751.1:n.-11+47142G>A
ENST00000615193.4:c.639G>A (DDC)	ENSP00000484104.1:p.Leu213=
ENST00000617822.4:c.774G>A (DDC)	ENSP00000478385.1:p.Leu258=
ENST00000622873.4:c.804G>A (DDC)	ENSP00000479110.1:p.Leu268=
NM_000790.3:c.918G>A (DDC)	NP_000781.1:p.Leu306=
NM_001082971.1:c.918G>A (DDC)	NP_001076440.1:p.Leu306=
NM_001242886.1:c.804G>A (DDC)	NP_001229815.1:p.Leu268=
NM_001242887.1:c.774G>A (DDC)	NP_001229816.1:p.Leu258=
NM_001242888.1:c.684G>A (DDC)	NP_001229817.1:p.Leu228=
NM_001242889.1:c.639G>A (DDC)	NP_001229818.1:p.Leu213=
NM_001242890.1:c.918G>A (DDC)	NP_001229819.1:p.Leu306=
XM_005271745.3:c.804G>A (DDC)	XP_005271802.1:p.Leu268=
XM_011515161.1:c.567G>A (DDC)	XP_011513463.1:p.Leu189=
XM_005271745.4:c.804G>A (DDC)	XP_005271802.1:p.Leu268=
XM_011515161.2:c.861G>A (DDC)	XP_011513463.2:p.Leu287=
NM_001082971.2:c.918G>A (DDC) MANE Select	NP_001076440.2:p.Leu306=
NM_000790.4:c.918G>A (DDC)	NP_000781.2:p.Leu306=
NM_001242888.2:c.684G>A (DDC)	NP_001229817.2:p.Leu228=
NM_001242890.2:c.918G>A (DDC)	NP_001229819.2:p.Leu306=
NM_001242886.2:c.804G>A (DDC)	NP_001229815.2:p.Leu268=
NM_001242887.2:c.774G>A (DDC)	NP_001229816.2:p.Leu258=
NM_001242889.2:c.639G>A (DDC)	NP_001229818.2:p.Leu213=