Canonical Allele Identifier: CA158229576

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs922143861
• gnomAD v3: 7-50500985-G-A
• gnomAD v4: 7-50500985-G-A
• MyVariant Identifiers: chr7:g.50568683G>A (hg19) ; chr7:g.50500985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50500985G>A , CM000669.2:g.50500985G>A	GRCh38
NC_000007.13:g.50568683G>A , CM000669.1:g.50568683G>A	GRCh37
NC_000007.12:g.50536177G>A	NCBI36
NG_008742.1:g.69472C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.782-1743C>T (DDC) MANE Select	ENSP00000403644.2:n.782-1743C>T
ENST00000357936.9:c.782-1743C>T (DDC)	ENSP00000350616.5:n.782-1743C>T
ENST00000380984.4:c.782-1743C>T (DDC)	ENSP00000370371.4:n.782-1743C>T
ENST00000426377.5:c.548-1743C>T (DDC)	ENSP00000395069.1:n.548-1743C>T
ENST00000430300.5:c.424-1743C>T (DDC)
ENST00000431062.5:c.503-1743C>T (DDC)	ENSP00000399184.1:n.503-1743C>T
ENST00000444124.6:c.782-1743C>T (DDC)	ENSP00000403644.2:n.782-1743C>T
ENST00000444733.5:c.667+3008C>T (DDC)	ENSP00000393724.1:n.667+3008C>T
ENST00000613602.3:c.-11+41533C>T (FIGNL1)	ENSP00000481751.1:n.-11+41533C>T
ENST00000615193.4:c.503-1743C>T (DDC)	ENSP00000484104.1:n.503-1743C>T
ENST00000617822.4:c.638-1743C>T (DDC)	ENSP00000478385.1:n.638-1743C>T
ENST00000622873.4:c.668-1743C>T (DDC)	ENSP00000479110.1:n.668-1743C>T
NM_000790.3:c.782-1743C>T (DDC)	NP_000781.1:n.782-1743C>T
NM_001082971.1:c.782-1743C>T (DDC)	NP_001076440.1:n.782-1743C>T
NM_001242886.1:c.668-1743C>T (DDC)	NP_001229815.1:n.668-1743C>T
NM_001242887.1:c.638-1743C>T (DDC)	NP_001229816.1:n.638-1743C>T
NM_001242888.1:c.548-1743C>T (DDC)	NP_001229817.1:n.548-1743C>T
NM_001242889.1:c.503-1743C>T (DDC)	NP_001229818.1:n.503-1743C>T
NM_001242890.1:c.782-1743C>T (DDC)	NP_001229819.1:n.782-1743C>T
XM_005271745.3:c.668-1743C>T (DDC)	XP_005271802.1:n.668-1743C>T
XM_011515161.1:c.431-1743C>T (DDC)	XP_011513463.1:n.431-1743C>T
XM_005271745.4:c.668-1743C>T (DDC)	XP_005271802.1:n.668-1743C>T
XM_011515161.2:c.725-1743C>T (DDC)	XP_011513463.2:n.725-1743C>T
NM_001082971.2:c.782-1743C>T (DDC) MANE Select	NP_001076440.2:n.782-1743C>T
NM_000790.4:c.782-1743C>T (DDC)	NP_000781.2:n.782-1743C>T
NM_001242888.2:c.548-1743C>T (DDC)	NP_001229817.2:n.548-1743C>T
NM_001242890.2:c.782-1743C>T (DDC)	NP_001229819.2:n.782-1743C>T
NM_001242886.2:c.668-1743C>T (DDC)	NP_001229815.2:n.668-1743C>T
NM_001242887.2:c.638-1743C>T (DDC)	NP_001229816.2:n.638-1743C>T
NM_001242889.2:c.503-1743C>T (DDC)	NP_001229818.2:n.503-1743C>T