Canonical Allele Identifier: CA367534702

Gene: DDC FIGNL1

Linked Data

• gnomAD v4: 7-50476625-C-G
• MyVariant Identifiers: chr7:g.50544323C>G (hg19) ; chr7:g.50476625C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50476625C>G , CM000669.2:g.50476625C>G	GRCh38
NC_000007.13:g.50544323C>G , CM000669.1:g.50544323C>G	GRCh37
NC_000007.12:g.50511817C>G	NCBI36
NG_008742.1:g.93832G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000444124.7:c.1040G>C (DDC) MANE Select	ENSP00000403644.2:p.Arg347Pro
ENST00000357936.9:c.1040G>C (DDC)	ENSP00000350616.5:p.Arg347Pro
ENST00000426377.5:c.806G>C (DDC)	ENSP00000395069.1:p.Arg269Pro
ENST00000430300.5:c.682G>C (DDC)
ENST00000431062.5:c.761G>C (DDC)	ENSP00000399184.1:p.Arg254Pro
ENST00000444124.6:c.1040G>C (DDC)	ENSP00000403644.2:p.Arg347Pro
ENST00000444733.5:c.*141G>C (DDC)	ENSP00000393724.1:n.*141G>C
ENST00000494914.1:n.196G>C (DDC)
ENST00000613602.3:c.-10-29328G>C (FIGNL1)	ENSP00000481751.1:n.-10-29328G>C
ENST00000615193.4:c.761G>C (DDC)	ENSP00000484104.1:p.Arg254Pro
ENST00000617822.4:c.896G>C (DDC)	ENSP00000478385.1:p.Arg299Pro
ENST00000622873.4:c.926G>C (DDC)	ENSP00000479110.1:p.Arg309Pro
NM_000790.3:c.1040G>C (DDC)	NP_000781.1:p.Arg347Pro
NM_001082971.1:c.1040G>C (DDC)	NP_001076440.1:p.Arg347Pro
NM_001242886.1:c.926G>C (DDC)	NP_001229815.1:p.Arg309Pro
NM_001242887.1:c.896G>C (DDC)	NP_001229816.1:p.Arg299Pro
NM_001242888.1:c.806G>C (DDC)	NP_001229817.1:p.Arg269Pro
NM_001242889.1:c.761G>C (DDC)	NP_001229818.1:p.Arg254Pro
XM_005271745.3:c.926G>C (DDC)	XP_005271802.1:p.Arg309Pro
XM_011515161.1:c.689G>C (DDC)	XP_011513463.1:p.Arg230Pro
XM_005271745.4:c.926G>C (DDC)	XP_005271802.1:p.Arg309Pro
XM_011515161.2:c.983G>C (DDC)	XP_011513463.2:p.Arg328Pro
NM_001082971.2:c.1040G>C (DDC) MANE Select	NP_001076440.2:p.Arg347Pro
NM_000790.4:c.1040G>C (DDC)	NP_000781.2:p.Arg347Pro
NM_001242888.2:c.806G>C (DDC)	NP_001229817.2:p.Arg269Pro
NM_001242886.2:c.926G>C (DDC)	NP_001229815.2:p.Arg309Pro
NM_001242887.2:c.896G>C (DDC)	NP_001229816.2:p.Arg299Pro
NM_001242889.2:c.761G>C (DDC)	NP_001229818.2:p.Arg254Pro