Canonical Allele Identifier: CA10629303
Gene: CDHR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 301309
ClinVar RCV Id: RCV000348779
dbSNP Id: rs113121685

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84217114C>T , CM000672.2:g.84217114C>T GRCh38
NC_000010.10:g.85976870C>T , CM000672.1:g.85976870C>T GRCh37
NC_000010.9:g.85966850C>T NCBI36
NG_028034.1:g.27459C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000623527.4:c.*2493C>T MANE Select ENSP00000485478.1:n.*2493C>T
ENST00000332904.7:c.2041-1965C>T ENSP00000331063.3:n.2041-1965C>T
ENST00000372117.6:c.4288C>T
ENST00000459673.1:n.3505C>T
ENST00000623399.1:c.212-1965C>T
ENST00000623527.3:c.*2493C>T ENSP00000485478.1:n.*2493C>T
NM_001171971.2:c.2041-1965C>T NP_001165442.1:n.2041-1965C>T
NM_033100.3:c.*2493C>T NP_149091.1:n.*2493C>T
XM_011540337.1:c.*2493C>T XP_011538639.1:n.*2493C>T
XM_011540338.1:c.2215-1965C>T XP_011538640.1:n.2215-1965C>T
XM_011540339.1:c.*2493C>T XP_011538641.1:n.*2493C>T
NM_033100.4:c.*2493C>T MANE Select NP_149091.1:n.*2493C>T
NM_001171971.3:c.2041-1965C>T NP_001165442.1:n.2041-1965C>T