Canonical Allele Identifier: CA2168277
Gene: CHRND HGNC NCBI

Linked Data

ClinVar Variation Id: 1454197
ClinVar RCV Id: RCV001941749
dbSNP Id: rs376017740

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534044C>T , CM000664.2:g.232534044C>T GRCh38
NC_000002.11:g.233398754C>T , CM000664.1:g.233398754C>T GRCh37
NC_000002.10:g.233106998C>T NCBI36
NG_008028.1:g.12833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1161C>T MANE Select ENSP00000258385.3:p.Ala387=
ENST00000258385.7:c.1161C>T ENSP00000258385.3:p.Ala387=
ENST00000441621.6:c.*343C>T ENSP00000408819.2:n.*343C>T
ENST00000446616.1:c.*802C>T ENSP00000410801.1:n.*802C>T
ENST00000543200.5:c.1116C>T ENSP00000438380.1:p.Ala372=
NM_000751.2:c.1161C>T NP_000742.1:p.Ala387=
NM_001256657.1:c.1116C>T NP_001243586.1:p.Ala372=
NM_001311195.1:c.579C>T NP_001298124.1:p.Ala193=
NM_001311196.1:c.858C>T NP_001298125.1:p.Ala286=
NR_046333.1:c.-4294966390C>T
NR_046334.1:c.-4294966111C>T
XM_011510524.1:c.780C>T XP_011508826.1:p.Ala260=
XM_011510524.2:c.780C>T XP_011508826.1:p.Ala260=
NM_000751.3:c.1161C>T MANE Select NP_000742.1:p.Ala387=
NM_001311195.2:c.579C>T NP_001298124.1:p.Ala193=
NM_001311196.2:c.858C>T NP_001298125.1:p.Ala286=
NM_001256657.2:c.1116C>T NP_001243586.1:p.Ala372=