Canonical Allele Identifier: CA5580249
Gene: CDHR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 301261
ClinVar RCV Id: RCV000333669 RCV000970405 RCV002056147
dbSNP Id: rs201515900
ExAC: 10:85974270 C / A
gnomAD v2: 10-85974270-C-A
gnomAD v3: 10-84214514-C-A
gnomAD v4: 10-84214514-C-A
MyVariant Identifiers: chr10:g.85974270C>A (hg19) chr10:g.84214514C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84214514C>A , CM000672.2:g.84214514C>A GRCh38
NC_000010.10:g.85974270C>A , CM000672.1:g.85974270C>A GRCh37
NC_000010.9:g.85964250C>A NCBI36
NG_028034.1:g.24859C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000623527.4:c.2473C>A MANE Select ENSP00000485478.1:p.Pro825Thr
ENST00000332904.7:c.2040+1166C>A ENSP00000331063.3:n.2040+1166C>A
ENST00000372117.6:c.1688C>A
ENST00000459673.1:n.905C>A
ENST00000623399.1:c.211+1166C>A
ENST00000623527.3:c.2473C>A ENSP00000485478.1:p.Pro825Thr
NM_001171971.2:c.2040+1166C>A NP_001165442.1:n.2040+1166C>A
NM_033100.3:c.2473C>A NP_149091.1:p.Pro825Thr
XM_011540337.1:c.2647C>A XP_011538639.1:p.Pro883Thr
XM_011540338.1:c.2214+1166C>A XP_011538640.1:n.2214+1166C>A
XM_011540339.1:c.2026C>A XP_011538641.1:p.Pro676Thr
NM_033100.4:c.2473C>A MANE Select NP_149091.1:p.Pro825Thr
NM_001171971.3:c.2040+1166C>A NP_001165442.1:n.2040+1166C>A
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