Canonical Allele Identifier: CA10629295

Gene: CDHR1

Linked Data

• ClinVar Variation Id: 301297
• ClinVar RCV Id: RCV000298254
• dbSNP Id: rs140640986
• gnomAD v2: 10-85976071-T-C
• gnomAD v3: 10-84216315-T-C
• gnomAD v4: 10-84216315-T-C
• MyVariant Identifiers: chr10:g.85976071T>C (hg19) ; chr10:g.84216315T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84216315T>C , CM000672.2:g.84216315T>C	GRCh38
NC_000010.10:g.85976071T>C , CM000672.1:g.85976071T>C	GRCh37
NC_000010.9:g.85966051T>C	NCBI36
NG_028034.1:g.26660T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623527.4:c.*1694T>C MANE Select	ENSP00000485478.1:n.*1694T>C
ENST00000332904.7:c.2041-2764T>C	ENSP00000331063.3:n.2041-2764T>C
ENST00000372117.6:c.3489T>C
ENST00000459673.1:n.2706T>C
ENST00000623399.1:c.212-2764T>C
ENST00000623527.3:c.*1694T>C	ENSP00000485478.1:n.*1694T>C
NM_001171971.2:c.2041-2764T>C	NP_001165442.1:n.2041-2764T>C
NM_033100.3:c.*1694T>C	NP_149091.1:n.*1694T>C
XM_011540337.1:c.*1694T>C	XP_011538639.1:n.*1694T>C
XM_011540338.1:c.2215-2764T>C	XP_011538640.1:n.2215-2764T>C
XM_011540339.1:c.*1694T>C	XP_011538641.1:n.*1694T>C
NM_033100.4:c.*1694T>C MANE Select	NP_149091.1:n.*1694T>C
NM_001171971.3:c.2041-2764T>C	NP_001165442.1:n.2041-2764T>C