Canonical Allele Identifier: CA367533514

Gene: DDC FIGNL1

Linked Data

• gnomAD v4: 7-50470140-C-A
• MyVariant Identifiers: chr7:g.50537838C>A (hg19) ; chr7:g.50470140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50470140C>A , CM000669.2:g.50470140C>A	GRCh38
NC_000007.13:g.50537838C>A , CM000669.1:g.50537838C>A	GRCh37
NC_000007.12:g.50505332C>A	NCBI36
NG_008742.1:g.100317G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1073G>T (DDC) MANE Select	ENSP00000403644.2:p.Arg358Leu
ENST00000357936.9:c.1073G>T (DDC)	ENSP00000350616.5:p.Arg358Leu
ENST00000426377.5:c.839G>T (DDC)	ENSP00000395069.1:p.Arg280Leu
ENST00000430300.5:c.715G>T (DDC)
ENST00000431062.5:c.794G>T (DDC)	ENSP00000399184.1:p.Arg265Leu
ENST00000444124.6:c.1073G>T (DDC)	ENSP00000403644.2:p.Arg358Leu
ENST00000444733.5:c.*174G>T (DDC)	ENSP00000393724.1:n.*174G>T
ENST00000494914.1:n.229G>T (DDC)
ENST00000613602.3:c.-10-22843G>T (FIGNL1)	ENSP00000481751.1:n.-10-22843G>T
ENST00000615193.4:c.794G>T (DDC)	ENSP00000484104.1:p.Arg265Leu
ENST00000617822.4:c.929G>T (DDC)	ENSP00000478385.1:p.Arg310Leu
ENST00000622873.4:c.959G>T (DDC)	ENSP00000479110.1:p.Arg320Leu
NM_000790.3:c.1073G>T (DDC)	NP_000781.1:p.Arg358Leu
NM_001082971.1:c.1073G>T (DDC)	NP_001076440.1:p.Arg358Leu
NM_001242886.1:c.959G>T (DDC)	NP_001229815.1:p.Arg320Leu
NM_001242887.1:c.929G>T (DDC)	NP_001229816.1:p.Arg310Leu
NM_001242888.1:c.839G>T (DDC)	NP_001229817.1:p.Arg280Leu
NM_001242889.1:c.794G>T (DDC)	NP_001229818.1:p.Arg265Leu
XM_005271745.3:c.959G>T (DDC)	XP_005271802.1:p.Arg320Leu
XM_011515161.1:c.722G>T (DDC)	XP_011513463.1:p.Arg241Leu
XM_005271745.4:c.959G>T (DDC)	XP_005271802.1:p.Arg320Leu
XM_011515161.2:c.1016G>T (DDC)	XP_011513463.2:p.Arg339Leu
NM_001082971.2:c.1073G>T (DDC) MANE Select	NP_001076440.2:p.Arg358Leu
NM_000790.4:c.1073G>T (DDC)	NP_000781.2:p.Arg358Leu
NM_001242888.2:c.839G>T (DDC)	NP_001229817.2:p.Arg280Leu
NM_001242886.2:c.959G>T (DDC)	NP_001229815.2:p.Arg320Leu
NM_001242887.2:c.929G>T (DDC)	NP_001229816.2:p.Arg310Leu
NM_001242889.2:c.794G>T (DDC)	NP_001229818.2:p.Arg265Leu