Canonical Allele Identifier: CA1335314026
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534142C= , CM000664.2:g.232534142C= GRCh38
NC_000002.11:g.233398852C= , CM000664.1:g.233398852C= GRCh37
NC_000002.10:g.233107096C= NCBI36
NG_008028.1:g.12931C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1252+7C= MANE Select ENSP00000258385.3:n.1252+7C=
ENST00000258385.7:c.1252+7C= ENSP00000258385.3:n.1252+7C=
ENST00000441621.6:c.*434+7C= ENSP00000408819.2:n.*434+7C=
ENST00000446616.1:c.*893+7C= ENSP00000410801.1:n.*893+7C=
ENST00000543200.5:c.1207+7C= ENSP00000438380.1:n.1207+7C=
NM_000751.2:c.1252+7C= NP_000742.1:n.1252+7C=
NM_001256657.1:c.1207+7C= NP_001243586.1:n.1207+7C=
NM_001311195.1:c.670+7C= NP_001298124.1:n.670+7C=
NM_001311196.1:c.949+7C= NP_001298125.1:n.949+7C=
NR_046333.1:c.-4294966299+7C=
NR_046334.1:c.-4294966020+7C=
XM_011510524.1:c.871+7C= XP_011508826.1:n.871+7C=
XM_011510524.2:c.871+7C= XP_011508826.1:n.871+7C=
NM_000751.3:c.1252+7C= MANE Select NP_000742.1:n.1252+7C=
NM_001311195.2:c.670+7C= NP_001298124.1:n.670+7C=
NM_001311196.2:c.949+7C= NP_001298125.1:n.949+7C=
NM_001256657.2:c.1207+7C= NP_001243586.1:n.1207+7C=