Canonical Allele Identifier: CA351005209
Gene: CHRND HGNC NCBI

Linked Data

ClinVar Variation Id: 2147893
dbSNP Id: rs1220106778

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534069C>T , CM000664.2:g.232534069C>T GRCh38
NC_000002.11:g.233398779C>T , CM000664.1:g.233398779C>T GRCh37
NC_000002.10:g.233107023C>T NCBI36
NG_008028.1:g.12858C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1186C>T MANE Select ENSP00000258385.3:p.Arg396Cys
ENST00000258385.7:c.1186C>T ENSP00000258385.3:p.Arg396Cys
ENST00000441621.6:c.*368C>T ENSP00000408819.2:n.*368C>T
ENST00000446616.1:c.*827C>T ENSP00000410801.1:n.*827C>T
ENST00000543200.5:c.1141C>T ENSP00000438380.1:p.Arg381Cys
NM_000751.2:c.1186C>T NP_000742.1:p.Arg396Cys
NM_001256657.1:c.1141C>T NP_001243586.1:p.Arg381Cys
NM_001311195.1:c.604C>T NP_001298124.1:p.Arg202Cys
NM_001311196.1:c.883C>T NP_001298125.1:p.Arg295Cys
NR_046333.1:c.-4294966365C>T
NR_046334.1:c.-4294966086C>T
XM_011510524.1:c.805C>T XP_011508826.1:p.Arg269Cys
XM_011510524.2:c.805C>T XP_011508826.1:p.Arg269Cys
NM_000751.3:c.1186C>T MANE Select NP_000742.1:p.Arg396Cys
NM_001311195.2:c.604C>T NP_001298124.1:p.Arg202Cys
NM_001311196.2:c.883C>T NP_001298125.1:p.Arg295Cys
NM_001256657.2:c.1141C>T NP_001243586.1:p.Arg381Cys