Canonical Allele Identifier: CA351005314
Gene: CHRND HGNC NCBI

Linked Data

ClinVar Variation Id: 1304198
ClinVar RCV Id: RCV001751965
dbSNP Id: rs1691806503

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534119G>T , CM000664.2:g.232534119G>T GRCh38
NC_000002.11:g.233398829G>T , CM000664.1:g.233398829G>T GRCh37
NC_000002.10:g.233107073G>T NCBI36
NG_008028.1:g.12908G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1236G>T MANE Select ENSP00000258385.3:p.Arg412Ser
ENST00000258385.7:c.1236G>T ENSP00000258385.3:p.Arg412Ser
ENST00000441621.6:c.*418G>T ENSP00000408819.2:n.*418G>T
ENST00000446616.1:c.*877G>T ENSP00000410801.1:n.*877G>T
ENST00000543200.5:c.1191G>T ENSP00000438380.1:p.Arg397Ser
NM_000751.2:c.1236G>T NP_000742.1:p.Arg412Ser
NM_001256657.1:c.1191G>T NP_001243586.1:p.Arg397Ser
NM_001311195.1:c.654G>T NP_001298124.1:p.Arg218Ser
NM_001311196.1:c.933G>T NP_001298125.1:p.Arg311Ser
NR_046333.1:c.-4294966315G>T
NR_046334.1:c.-4294966036G>T
XM_011510524.1:c.855G>T XP_011508826.1:p.Arg285Ser
XM_011510524.2:c.855G>T XP_011508826.1:p.Arg285Ser
NM_000751.3:c.1236G>T MANE Select NP_000742.1:p.Arg412Ser
NM_001311195.2:c.654G>T NP_001298124.1:p.Arg218Ser
NM_001311196.2:c.933G>T NP_001298125.1:p.Arg311Ser
NM_001256657.2:c.1191G>T NP_001243586.1:p.Arg397Ser