Canonical Allele Identifier: CA10636271

Gene: CDHR1

Linked Data

• ClinVar Variation Id: 301282
• ClinVar RCV Id: RCV000261026
• dbSNP Id: rs886047337
• gnomAD v2: 10-85975291-C-A
• gnomAD v3: 10-84215535-C-A
• gnomAD v4: 10-84215535-C-A
• MyVariant Identifiers: chr10:g.85975291C>A (hg19) ; chr10:g.84215535C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84215535C>A , CM000672.2:g.84215535C>A	GRCh38
NC_000010.10:g.85975291C>A , CM000672.1:g.85975291C>A	GRCh37
NC_000010.9:g.85965271C>A	NCBI36
NG_028034.1:g.25880C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623527.4:c.*914C>A MANE Select	ENSP00000485478.1:n.*914C>A
ENST00000332904.7:c.2040+2187C>A	ENSP00000331063.3:n.2040+2187C>A
ENST00000372117.6:c.2709C>A
ENST00000459673.1:n.1926C>A
ENST00000623399.1:c.211+2187C>A
ENST00000623527.3:c.*914C>A	ENSP00000485478.1:n.*914C>A
NM_001171971.2:c.2040+2187C>A	NP_001165442.1:n.2040+2187C>A
NM_033100.3:c.*914C>A	NP_149091.1:n.*914C>A
XM_011540337.1:c.*914C>A	XP_011538639.1:n.*914C>A
XM_011540338.1:c.2214+2187C>A	XP_011538640.1:n.2214+2187C>A
XM_011540339.1:c.*914C>A	XP_011538641.1:n.*914C>A
NM_033100.4:c.*914C>A MANE Select	NP_149091.1:n.*914C>A
NM_001171971.3:c.2040+2187C>A	NP_001165442.1:n.2040+2187C>A