Canonical Allele Identifier: CA16617496
Gene: CHRND HGNC NCBI

Linked Data

ClinVar Variation Id: 422341
ClinVar RCV Id: RCV000482356
dbSNP Id: rs1064795719

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232531540A>G , CM000664.2:g.232531540A>G GRCh38
NC_000002.11:g.233396250A>G , CM000664.1:g.233396250A>G GRCh37
NC_000002.10:g.233104494A>G NCBI36
NG_008028.1:g.10329A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.933-2A>G MANE Select ENSP00000258385.3:n.933-2A>G
ENST00000258385.7:c.933-2A>G ENSP00000258385.3:n.933-2A>G
ENST00000412233.5:c.*106-2A>G ENSP00000398143.1:n.*106-2A>G
ENST00000441621.6:c.*115-2A>G ENSP00000408819.2:n.*115-2A>G
ENST00000446616.1:c.*574-2A>G ENSP00000410801.1:n.*574-2A>G
ENST00000543200.5:c.888-2A>G ENSP00000438380.1:n.888-2A>G
NM_000751.2:c.933-2A>G NP_000742.1:n.933-2A>G
NM_001256657.1:c.888-2A>G NP_001243586.1:n.888-2A>G
NM_001311195.1:c.351-2A>G NP_001298124.1:n.351-2A>G
NM_001311196.1:c.630-2A>G NP_001298125.1:n.630-2A>G
NR_046333.1:c.-4294966618-2A>G
NR_046334.1:c.-4294966339-2A>G
XM_011510524.1:c.552-2A>G XP_011508826.1:n.552-2A>G
XM_011510524.2:c.552-2A>G XP_011508826.1:n.552-2A>G
NM_000751.3:c.933-2A>G MANE Select NP_000742.1:n.933-2A>G
NM_001311195.2:c.351-2A>G NP_001298124.1:n.351-2A>G
NM_001311196.2:c.630-2A>G NP_001298125.1:n.630-2A>G
NM_001256657.2:c.888-2A>G NP_001243586.1:n.888-2A>G