Canonical Allele Identifier: CA10636649

Gene: CDHR1

Linked Data

• ClinVar Variation Id: 301268
• ClinVar RCV Id: RCV000286332
• dbSNP Id: rs41291360
• gnomAD v4: 10-84214926-C-G
• MyVariant Identifiers: chr10:g.85974682C>G (hg19) ; chr10:g.84214926C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84214926C>G , CM000672.2:g.84214926C>G	GRCh38
NC_000010.10:g.85974682C>G , CM000672.1:g.85974682C>G	GRCh37
NC_000010.9:g.85964662C>G	NCBI36
NG_028034.1:g.25271C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623527.4:c.*305C>G MANE Select	ENSP00000485478.1:n.*305C>G
ENST00000332904.7:c.2040+1578C>G	ENSP00000331063.3:n.2040+1578C>G
ENST00000372117.6:c.2100C>G
ENST00000459673.1:n.1317C>G
ENST00000623399.1:c.211+1578C>G
ENST00000623527.3:c.*305C>G	ENSP00000485478.1:n.*305C>G
NM_001171971.2:c.2040+1578C>G	NP_001165442.1:n.2040+1578C>G
NM_033100.3:c.*305C>G	NP_149091.1:n.*305C>G
XM_011540337.1:c.*305C>G	XP_011538639.1:n.*305C>G
XM_011540338.1:c.2214+1578C>G	XP_011538640.1:n.2214+1578C>G
XM_011540339.1:c.*305C>G	XP_011538641.1:n.*305C>G
NM_033100.4:c.*305C>G MANE Select	NP_149091.1:n.*305C>G
NM_001171971.3:c.2040+1578C>G	NP_001165442.1:n.2040+1578C>G