Canonical Allele Identifier: CA158225576

Gene: DDC FIGNL1

Linked Data

• dbSNP Id: rs757122493
• gnomAD v4: 7-50476679-G-T
• MyVariant Identifiers: chr7:g.50544377G>T (hg19) ; chr7:g.50476679G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50476679G>T , CM000669.2:g.50476679G>T	GRCh38
NC_000007.13:g.50544377G>T , CM000669.1:g.50544377G>T	GRCh37
NC_000007.12:g.50511871G>T	NCBI36
NG_008742.1:g.93778C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.1022-36C>A (DDC) MANE Select	ENSP00000403644.2:n.1022-36C>A
ENST00000357936.9:c.1022-36C>A (DDC)	ENSP00000350616.5:n.1022-36C>A
ENST00000426377.5:c.788-36C>A (DDC)	ENSP00000395069.1:n.788-36C>A
ENST00000430300.5:c.664-36C>A (DDC)
ENST00000431062.5:c.743-36C>A (DDC)	ENSP00000399184.1:n.743-36C>A
ENST00000444124.6:c.1022-36C>A (DDC)	ENSP00000403644.2:n.1022-36C>A
ENST00000444733.5:c.*123-36C>A (DDC)	ENSP00000393724.1:n.*123-36C>A
ENST00000494914.1:n.178-36C>A (DDC)
ENST00000613602.3:c.-10-29382C>A (FIGNL1)	ENSP00000481751.1:n.-10-29382C>A
ENST00000615193.4:c.743-36C>A (DDC)	ENSP00000484104.1:n.743-36C>A
ENST00000617822.4:c.878-36C>A (DDC)	ENSP00000478385.1:n.878-36C>A
ENST00000622873.4:c.908-36C>A (DDC)	ENSP00000479110.1:n.908-36C>A
NM_000790.3:c.1022-36C>A (DDC)	NP_000781.1:n.1022-36C>A
NM_001082971.1:c.1022-36C>A (DDC)	NP_001076440.1:n.1022-36C>A
NM_001242886.1:c.908-36C>A (DDC)	NP_001229815.1:n.908-36C>A
NM_001242887.1:c.878-36C>A (DDC)	NP_001229816.1:n.878-36C>A
NM_001242888.1:c.788-36C>A (DDC)	NP_001229817.1:n.788-36C>A
NM_001242889.1:c.743-36C>A (DDC)	NP_001229818.1:n.743-36C>A
XM_005271745.3:c.908-36C>A (DDC)	XP_005271802.1:n.908-36C>A
XM_011515161.1:c.671-36C>A (DDC)	XP_011513463.1:n.671-36C>A
XM_005271745.4:c.908-36C>A (DDC)	XP_005271802.1:n.908-36C>A
XM_011515161.2:c.965-36C>A (DDC)	XP_011513463.2:n.965-36C>A
NM_001082971.2:c.1022-36C>A (DDC) MANE Select	NP_001076440.2:n.1022-36C>A
NM_000790.4:c.1022-36C>A (DDC)	NP_000781.2:n.1022-36C>A
NM_001242888.2:c.788-36C>A (DDC)	NP_001229817.2:n.788-36C>A
NM_001242886.2:c.908-36C>A (DDC)	NP_001229815.2:n.908-36C>A
NM_001242887.2:c.878-36C>A (DDC)	NP_001229816.2:n.878-36C>A
NM_001242889.2:c.743-36C>A (DDC)	NP_001229818.2:n.743-36C>A