Canonical Allele Identifier: CA4262509

Gene: DDC

Linked Data

• ClinVar Variation Id: 1445291
• ClinVar RCV Id: RCV001982849
• dbSNP Id: rs781573378
• ExAC: 7:50611704 C / T
• gnomAD v2: 7-50611704-C-T
• gnomAD v4: 7-50544006-C-T
• COSMIC: COSM3881650 ; COSM3881651
• MyVariant Identifiers: chr7:g.50611704C>T (hg19) ; chr7:g.50544006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.50544006C>T , CM000669.2:g.50544006C>T	GRCh38
NC_000007.13:g.50611704C>T , CM000669.1:g.50611704C>T	GRCh37
NC_000007.12:g.50579198C>T	NCBI36
NG_008742.1:g.26451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000444124.7:c.80G>A MANE Select	ENSP00000403644.2:p.Arg27His
ENST00000357936.9:c.80G>A	ENSP00000350616.5:p.Arg27His
ENST00000380984.4:c.80G>A	ENSP00000370371.4:p.Arg27His
ENST00000420203.1:c.80G>A	ENSP00000408626.1:p.Arg27His
ENST00000426377.5:c.80G>A	ENSP00000395069.1:p.Arg27His
ENST00000431062.5:c.80G>A	ENSP00000399184.1:p.Arg27His
ENST00000444124.6:c.80G>A	ENSP00000403644.2:p.Arg27His
ENST00000444733.5:c.80G>A	ENSP00000393724.1:p.Arg27His
ENST00000615193.4:c.80G>A	ENSP00000484104.1:p.Arg27His
ENST00000617822.4:c.80G>A	ENSP00000478385.1:p.Arg27His
ENST00000622873.4:c.80G>A	ENSP00000479110.1:p.Arg27His
NM_000790.3:c.80G>A	NP_000781.1:p.Arg27His
NM_001082971.1:c.80G>A	NP_001076440.1:p.Arg27His
NM_001242886.1:c.80G>A	NP_001229815.1:p.Arg27His
NM_001242887.1:c.80G>A	NP_001229816.1:p.Arg27His
NM_001242888.1:c.80G>A	NP_001229817.1:p.Arg27His
NM_001242889.1:c.80G>A	NP_001229818.1:p.Arg27His
NM_001242890.1:c.80G>A	NP_001229819.1:p.Arg27His
XM_005271745.3:c.80G>A	XP_005271802.1:p.Arg27His
XM_005271745.4:c.80G>A	XP_005271802.1:p.Arg27His
NM_001082971.2:c.80G>A MANE Select	NP_001076440.2:p.Arg27His
NM_000790.4:c.80G>A	NP_000781.2:p.Arg27His
NM_001242888.2:c.80G>A	NP_001229817.2:p.Arg27His
NM_001242890.2:c.80G>A	NP_001229819.2:p.Arg27His
NM_001242886.2:c.80G>A	NP_001229815.2:p.Arg27His
NM_001242887.2:c.80G>A	NP_001229816.2:p.Arg27His
NM_001242889.2:c.80G>A	NP_001229818.2:p.Arg27His