Canonical Allele Identifier: CA1335314113
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534349G= , CM000664.2:g.232534349G= GRCh38
NC_000002.11:g.233399059G= , CM000664.1:g.233399059G= GRCh37
NC_000002.10:g.233107303G= NCBI36
NG_008028.1:g.13138G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1371+7G= MANE Select ENSP00000258385.3:n.1371+7G=
ENST00000258385.7:c.1371+7G= ENSP00000258385.3:n.1371+7G=
ENST00000441621.6:c.*553+7G= ENSP00000408819.2:n.*553+7G=
ENST00000446616.1:c.*1012+7G= ENSP00000410801.1:n.*1012+7G=
ENST00000543200.5:c.1326+7G= ENSP00000438380.1:n.1326+7G=
NM_000751.2:c.1371+7G= NP_000742.1:n.1371+7G=
NM_001256657.1:c.1326+7G= NP_001243586.1:n.1326+7G=
NM_001311195.1:c.789+7G= NP_001298124.1:n.789+7G=
NM_001311196.1:c.1068+7G= NP_001298125.1:n.1068+7G=
NR_046333.1:c.-4294966180+7G=
NR_046334.1:c.-4294965901+7G=
XM_011510524.1:c.990+7G= XP_011508826.1:n.990+7G=
XM_011510524.2:c.990+7G= XP_011508826.1:n.990+7G=
NM_000751.3:c.1371+7G= MANE Select NP_000742.1:n.1371+7G=
NM_001311195.2:c.789+7G= NP_001298124.1:n.789+7G=
NM_001311196.2:c.1068+7G= NP_001298125.1:n.1068+7G=
NM_001256657.2:c.1326+7G= NP_001243586.1:n.1326+7G=