Canonical Allele Identifier: CA2168290
Gene: CHRND HGNC NCBI

Linked Data

dbSNP Id: rs145955590

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534087G>C , CM000664.2:g.232534087G>C GRCh38
NC_000002.11:g.233398797G>C , CM000664.1:g.233398797G>C GRCh37
NC_000002.10:g.233107041G>C NCBI36
NG_008028.1:g.12876G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.1204G>C MANE Select ENSP00000258385.3:p.Glu402Gln
ENST00000258385.7:c.1204G>C ENSP00000258385.3:p.Glu402Gln
ENST00000441621.6:c.*386G>C ENSP00000408819.2:n.*386G>C
ENST00000446616.1:c.*845G>C ENSP00000410801.1:n.*845G>C
ENST00000543200.5:c.1159G>C ENSP00000438380.1:p.Glu387Gln
NM_000751.2:c.1204G>C NP_000742.1:p.Glu402Gln
NM_001256657.1:c.1159G>C NP_001243586.1:p.Glu387Gln
NM_001311195.1:c.622G>C NP_001298124.1:p.Glu208Gln
NM_001311196.1:c.901G>C NP_001298125.1:p.Glu301Gln
NR_046333.1:c.-4294966347G>C
NR_046334.1:c.-4294966068G>C
XM_011510524.1:c.823G>C XP_011508826.1:p.Glu275Gln
XM_011510524.2:c.823G>C XP_011508826.1:p.Glu275Gln
NM_000751.3:c.1204G>C MANE Select NP_000742.1:p.Glu402Gln
NM_001311195.2:c.622G>C NP_001298124.1:p.Glu208Gln
NM_001311196.2:c.901G>C NP_001298125.1:p.Glu301Gln
NM_001256657.2:c.1159G>C NP_001243586.1:p.Glu387Gln