Canonical Allele Identifier: CA351005244
Gene: CHRND HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534085T>C , CM000664.2:g.232534085T>C GRCh38
NC_000002.11:g.233398795T>C , CM000664.1:g.233398795T>C GRCh37
NC_000002.10:g.233107039T>C NCBI36
NG_008028.1:g.12874T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1202T>C MANE Select ENSP00000258385.3:p.Phe401Ser
ENST00000258385.7:c.1202T>C ENSP00000258385.3:p.Phe401Ser
ENST00000441621.6:c.*384T>C ENSP00000408819.2:n.*384T>C
ENST00000446616.1:c.*843T>C ENSP00000410801.1:n.*843T>C
ENST00000543200.5:c.1157T>C ENSP00000438380.1:p.Phe386Ser
NM_000751.2:c.1202T>C NP_000742.1:p.Phe401Ser
NM_001256657.1:c.1157T>C NP_001243586.1:p.Phe386Ser
NM_001311195.1:c.620T>C NP_001298124.1:p.Phe207Ser
NM_001311196.1:c.899T>C NP_001298125.1:p.Phe300Ser
NR_046333.1:c.-4294966349T>C
NR_046334.1:c.-4294966070T>C
XM_011510524.1:c.821T>C XP_011508826.1:p.Phe274Ser
XM_011510524.2:c.821T>C XP_011508826.1:p.Phe274Ser
NM_000751.3:c.1202T>C MANE Select NP_000742.1:p.Phe401Ser
NM_001311195.2:c.620T>C NP_001298124.1:p.Phe207Ser
NM_001311196.2:c.899T>C NP_001298125.1:p.Phe300Ser
NM_001256657.2:c.1157T>C NP_001243586.1:p.Phe386Ser