Canonical Allele Identifier: CA128063
Gene: CHRND HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232530131C>A , CM000664.2:g.232530131C>A GRCh38
NC_000002.11:g.233394841C>A , CM000664.1:g.233394841C>A GRCh37
NC_000002.10:g.233103085C>A NCBI36
NG_008028.1:g.8920C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.812C>A MANE Select ENSP00000258385.3:p.Pro271Gln
ENST00000258385.7:c.812C>A ENSP00000258385.3:p.Pro271Gln
ENST00000412233.5:c.510-1221C>A ENSP00000398143.1:n.510-1221C>A
ENST00000441621.6:c.702C>A ENSP00000408819.2:p.Thr234=
ENST00000446616.1:c.*453C>A ENSP00000410801.1:n.*453C>A
ENST00000543200.5:c.767C>A ENSP00000438380.1:p.Pro256Gln
NM_000751.2:c.812C>A NP_000742.1:p.Pro271Gln
NM_001256657.1:c.767C>A NP_001243586.1:p.Pro256Gln
NM_001311195.1:c.239-1221C>A NP_001298124.1:n.239-1221C>A
NM_001311196.1:c.509C>A NP_001298125.1:p.Pro170Gln
NR_046333.1:c.-4294966730-1221C>A
NR_046334.1:c.-4294966460C>A
XM_011510524.1:c.431C>A XP_011508826.1:p.Pro144Gln
XM_011510524.2:c.431C>A XP_011508826.1:p.Pro144Gln
NM_000751.3:c.812C>A MANE Select NP_000742.1:p.Pro271Gln
NM_001311195.2:c.239-1221C>A NP_001298124.1:n.239-1221C>A
NM_001311196.2:c.509C>A NP_001298125.1:p.Pro170Gln
NM_001256657.2:c.767C>A NP_001243586.1:p.Pro256Gln