Canonical Allele Identifier: CA351005564
Gene: CHRND HGNC NCBI

Linked Data

ClinVar Variation Id: 935357
ClinVar RCV Id: RCV001203928
dbSNP Id: rs1691812180

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534261A>T , CM000664.2:g.232534261A>T GRCh38
NC_000002.11:g.233398971A>T , CM000664.1:g.233398971A>T GRCh37
NC_000002.10:g.233107215A>T NCBI36
NG_008028.1:g.13050A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1290A>T MANE Select ENSP00000258385.3:p.Glu430Asp
ENST00000258385.7:c.1290A>T ENSP00000258385.3:p.Glu430Asp
ENST00000441621.6:c.*472A>T ENSP00000408819.2:n.*472A>T
ENST00000446616.1:c.*931A>T ENSP00000410801.1:n.*931A>T
ENST00000543200.5:c.1245A>T ENSP00000438380.1:p.Glu415Asp
NM_000751.2:c.1290A>T NP_000742.1:p.Glu430Asp
NM_001256657.1:c.1245A>T NP_001243586.1:p.Glu415Asp
NM_001311195.1:c.708A>T NP_001298124.1:p.Glu236Asp
NM_001311196.1:c.987A>T NP_001298125.1:p.Glu329Asp
NR_046333.1:c.-4294966261A>T
NR_046334.1:c.-4294965982A>T
XM_011510524.1:c.909A>T XP_011508826.1:p.Glu303Asp
XM_011510524.2:c.909A>T XP_011508826.1:p.Glu303Asp
NM_000751.3:c.1290A>T MANE Select NP_000742.1:p.Glu430Asp
NM_001311195.2:c.708A>T NP_001298124.1:p.Glu236Asp
NM_001311196.2:c.987A>T NP_001298125.1:p.Glu329Asp
NM_001256657.2:c.1245A>T NP_001243586.1:p.Glu415Asp