Canonical Allele Identifier: CA10636651

Gene: CDHR1

Linked Data

• ClinVar Variation Id: 301274
• ClinVar RCV Id: RCV000307658
• dbSNP Id: rs886047333
• gnomAD v2: 10-85974960-G-A
• gnomAD v3: 10-84215204-G-A
• gnomAD v4: 10-84215204-G-A
• MyVariant Identifiers: chr10:g.85974960G>A (hg19) ; chr10:g.84215204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84215204G>A , CM000672.2:g.84215204G>A	GRCh38
NC_000010.10:g.85974960G>A , CM000672.1:g.85974960G>A	GRCh37
NC_000010.9:g.85964940G>A	NCBI36
NG_028034.1:g.25549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623527.4:c.*583G>A MANE Select	ENSP00000485478.1:n.*583G>A
ENST00000332904.7:c.2040+1856G>A	ENSP00000331063.3:n.2040+1856G>A
ENST00000372117.6:c.2378G>A
ENST00000459673.1:n.1595G>A
ENST00000623399.1:c.211+1856G>A
ENST00000623527.3:c.*583G>A	ENSP00000485478.1:n.*583G>A
NM_001171971.2:c.2040+1856G>A	NP_001165442.1:n.2040+1856G>A
NM_033100.3:c.*583G>A	NP_149091.1:n.*583G>A
XM_011540337.1:c.*583G>A	XP_011538639.1:n.*583G>A
XM_011540338.1:c.2214+1856G>A	XP_011538640.1:n.2214+1856G>A
XM_011540339.1:c.*583G>A	XP_011538641.1:n.*583G>A
NM_033100.4:c.*583G>A MANE Select	NP_149091.1:n.*583G>A
NM_001171971.3:c.2040+1856G>A	NP_001165442.1:n.2040+1856G>A