Canonical Allele Identifier: CA248016
Gene: CHRND HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232531533T>C
GRCh37 chr2:g.233396243T>C
gnomAD v2:
2:233396243 T / C
gnomAD v3:
2:232531533 T / C
gnomAD v4:
chr2-232531533-T-C
Joint Max Group AF 0.00085364 (AFR)
Genomes Max Group AF 0.00078892 (AFR)
Exomes Max Group AF 0.00077201 (AFR)
ClinVar RCV:
RCV000180528
RCV001078950
ClinVar Variation:
199038
dbSNP:
199592458
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232531533T>C , CM000664.2:g.232531533T>C GRCh38
NC_000002.11:g.233396243T>C , CM000664.1:g.233396243T>C GRCh37
NC_000002.10:g.233104487T>C NCBI36
NG_008028.1:g.10322T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.933-9T>C MANE Select ENSP00000258385.3:n.933-9T>C
ENST00000258385.7:c.933-9T>C ENSP00000258385.3:n.933-9T>C
ENST00000412233.5:c.*106-9T>C ENSP00000398143.1:n.*106-9T>C
ENST00000441621.6:c.*115-9T>C ENSP00000408819.2:n.*115-9T>C
ENST00000446616.1:c.*574-9T>C ENSP00000410801.1:n.*574-9T>C
ENST00000543200.5:c.888-9T>C ENSP00000438380.1:n.888-9T>C
NM_000751.2:c.933-9T>C NP_000742.1:n.933-9T>C
NM_001256657.1:c.888-9T>C NP_001243586.1:n.888-9T>C
NM_001311195.1:c.351-9T>C NP_001298124.1:n.351-9T>C
NM_001311196.1:c.630-9T>C NP_001298125.1:n.630-9T>C
NR_046333.1:c.-4294966618-9T>C
NR_046334.1:c.-4294966339-9T>C
XM_011510524.1:c.552-9T>C XP_011508826.1:n.552-9T>C
XM_011510524.2:c.552-9T>C XP_011508826.1:n.552-9T>C
NM_000751.3:c.933-9T>C MANE Select NP_000742.1:n.933-9T>C
NM_001311195.2:c.351-9T>C NP_001298124.1:n.351-9T>C
NM_001311196.2:c.630-9T>C NP_001298125.1:n.630-9T>C
NM_001256657.2:c.888-9T>C NP_001243586.1:n.888-9T>C
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