Canonical Allele Identifier: CA158227731

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs544234106
• gnomAD v3: 7-50485288-G-T
• gnomAD v4: 7-50485288-G-T
• MyVariant Identifiers: chr7:g.50552986G>T (hg19) ; chr7:g.50485288G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50485288G>T , CM000669.2:g.50485288G>T	GRCh38
NC_000007.13:g.50552986G>T , CM000669.1:g.50552986G>T	GRCh37
NC_000007.12:g.50520480G>T	NCBI36
NG_008742.1:g.85169C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.945-5425C>A (DDC) MANE Select	ENSP00000403644.2:n.945-5425C>A
ENST00000357936.9:c.945-5425C>A (DDC)	ENSP00000350616.5:n.945-5425C>A
ENST00000426377.5:c.711-5425C>A (DDC)	ENSP00000395069.1:n.711-5425C>A
ENST00000430300.5:c.587-5425C>A (DDC)
ENST00000431062.5:c.666-5425C>A (DDC)	ENSP00000399184.1:n.666-5425C>A
ENST00000444124.6:c.945-5425C>A (DDC)	ENSP00000403644.2:n.945-5425C>A
ENST00000444733.5:c.*46-5425C>A (DDC)	ENSP00000393724.1:n.*46-5425C>A
ENST00000613602.3:c.-10-37991C>A (FIGNL1)	ENSP00000481751.1:n.-10-37991C>A
ENST00000615193.4:c.666-5425C>A (DDC)	ENSP00000484104.1:n.666-5425C>A
ENST00000617822.4:c.801-5425C>A (DDC)	ENSP00000478385.1:n.801-5425C>A
ENST00000622873.4:c.831-5425C>A (DDC)	ENSP00000479110.1:n.831-5425C>A
NM_000790.3:c.945-5425C>A (DDC)	NP_000781.1:n.945-5425C>A
NM_001082971.1:c.945-5425C>A (DDC)	NP_001076440.1:n.945-5425C>A
NM_001242886.1:c.831-5425C>A (DDC)	NP_001229815.1:n.831-5425C>A
NM_001242887.1:c.801-5425C>A (DDC)	NP_001229816.1:n.801-5425C>A
NM_001242888.1:c.711-5425C>A (DDC)	NP_001229817.1:n.711-5425C>A
NM_001242889.1:c.666-5425C>A (DDC)	NP_001229818.1:n.666-5425C>A
XM_005271745.3:c.831-5425C>A (DDC)	XP_005271802.1:n.831-5425C>A
XM_011515161.1:c.594-5425C>A (DDC)	XP_011513463.1:n.594-5425C>A
XM_005271745.4:c.831-5425C>A (DDC)	XP_005271802.1:n.831-5425C>A
XM_011515161.2:c.888-5425C>A (DDC)	XP_011513463.2:n.888-5425C>A
NM_001082971.2:c.945-5425C>A (DDC) MANE Select	NP_001076440.2:n.945-5425C>A
NM_000790.4:c.945-5425C>A (DDC)	NP_000781.2:n.945-5425C>A
NM_001242888.2:c.711-5425C>A (DDC)	NP_001229817.2:n.711-5425C>A
NM_001242886.2:c.831-5425C>A (DDC)	NP_001229815.2:n.831-5425C>A
NM_001242887.2:c.801-5425C>A (DDC)	NP_001229816.2:n.801-5425C>A
NM_001242889.2:c.666-5425C>A (DDC)	NP_001229818.2:n.666-5425C>A