Canonical Allele Identifier: CA1335313967
Gene: CHRND HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534005G= , CM000664.2:g.232534005G= GRCh38
NC_000002.11:g.233398715G= , CM000664.1:g.233398715G= GRCh37
NC_000002.10:g.233106959G= NCBI36
NG_008028.1:g.12794G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1122G= MANE Select ENSP00000258385.3:p.Leu374=
ENST00000258385.7:c.1122G= ENSP00000258385.3:p.Leu374=
ENST00000441621.6:c.*304G= ENSP00000408819.2:n.*304G=
ENST00000446616.1:c.*763G= ENSP00000410801.1:n.*763G=
ENST00000543200.5:c.1077G= ENSP00000438380.1:p.Leu359=
NM_000751.2:c.1122G= NP_000742.1:p.Leu374=
NM_001256657.1:c.1077G= NP_001243586.1:p.Leu359=
NM_001311195.1:c.540G= NP_001298124.1:p.Leu180=
NM_001311196.1:c.819G= NP_001298125.1:p.Leu273=
NR_046333.1:c.-4294966429G=
NR_046334.1:c.-4294966150G=
XM_011510524.1:c.741G= XP_011508826.1:p.Leu247=
XM_011510524.2:c.741G= XP_011508826.1:p.Leu247=
NM_000751.3:c.1122G= MANE Select NP_000742.1:p.Leu374=
NM_001311195.2:c.540G= NP_001298124.1:p.Leu180=
NM_001311196.2:c.819G= NP_001298125.1:p.Leu273=
NM_001256657.2:c.1077G= NP_001243586.1:p.Leu359=