Canonical Allele Identifier: CA127446

Linked Data

ClinVar Variation Id: 17811
ClinVar RCV Id: RCV000019389
dbSNP Id: rs137853209

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495369A>G , CM000669.2:g.50495369A>G GRCh38
NC_000007.13:g.50563067A>G , CM000669.1:g.50563067A>G GRCh37
NC_000007.12:g.50530561A>G NCBI36
NG_008742.1:g.75088T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.925T>C (DDC) MANE Select ENSP00000403644.2:p.Phe309Leu
ENST00000357936.9:c.925T>C (DDC) ENSP00000350616.5:p.Phe309Leu
ENST00000380984.4:c.925T>C (DDC) ENSP00000370371.4:p.Phe309Leu
ENST00000426377.5:c.691T>C (DDC) ENSP00000395069.1:p.Phe231Leu
ENST00000430300.5:c.567T>C (DDC)
ENST00000431062.5:c.646T>C (DDC) ENSP00000399184.1:p.Phe216Leu
ENST00000444124.6:c.925T>C (DDC) ENSP00000403644.2:p.Phe309Leu
ENST00000444733.5:c.*26T>C (DDC) ENSP00000393724.1:n.*26T>C
ENST00000613602.3:c.-11+47149T>C (FIGNL1) ENSP00000481751.1:n.-11+47149T>C
ENST00000615193.4:c.646T>C (DDC) ENSP00000484104.1:p.Phe216Leu
ENST00000617822.4:c.781T>C (DDC) ENSP00000478385.1:p.Phe261Leu
ENST00000622873.4:c.811T>C (DDC) ENSP00000479110.1:p.Phe271Leu
NM_000790.3:c.925T>C (DDC) NP_000781.1:p.Phe309Leu
NM_001082971.1:c.925T>C (DDC) NP_001076440.1:p.Phe309Leu
NM_001242886.1:c.811T>C (DDC) NP_001229815.1:p.Phe271Leu
NM_001242887.1:c.781T>C (DDC) NP_001229816.1:p.Phe261Leu
NM_001242888.1:c.691T>C (DDC) NP_001229817.1:p.Phe231Leu
NM_001242889.1:c.646T>C (DDC) NP_001229818.1:p.Phe216Leu
NM_001242890.1:c.925T>C (DDC) NP_001229819.1:p.Phe309Leu
XM_005271745.3:c.811T>C (DDC) XP_005271802.1:p.Phe271Leu
XM_011515161.1:c.574T>C (DDC) XP_011513463.1:p.Phe192Leu
XM_005271745.4:c.811T>C (DDC) XP_005271802.1:p.Phe271Leu
XM_011515161.2:c.868T>C (DDC) XP_011513463.2:p.Phe290Leu
NM_001082971.2:c.925T>C (DDC) MANE Select NP_001076440.2:p.Phe309Leu
NM_000790.4:c.925T>C (DDC) NP_000781.2:p.Phe309Leu
NM_001242888.2:c.691T>C (DDC) NP_001229817.2:p.Phe231Leu
NM_001242890.2:c.925T>C (DDC) NP_001229819.2:p.Phe309Leu
NM_001242886.2:c.811T>C (DDC) NP_001229815.2:p.Phe271Leu
NM_001242887.2:c.781T>C (DDC) NP_001229816.2:p.Phe261Leu
NM_001242889.2:c.646T>C (DDC) NP_001229818.2:p.Phe216Leu