Canonical Allele Identifier: CA377378237
Community Standard Title: NM_033100.4(CDHR1):c.1783-2A>G
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84213089A>G , CM000672.2:g.84213089A>G GRCh38
NC_000010.10:g.85972845A>G , CM000672.1:g.85972845A>G GRCh37
NC_000010.9:g.85962825A>G NCBI36
NG_028034.1:g.23434A>G

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.1783-2A>G MANE Select NP_149091.1:n.1783-2A>G
ENST00000623527.4:c.1783-2A>G MANE Select ENSP00000485478.1:n.1783-2A>G
NM_001171971.2:c.1783-2A>G NP_001165442.1:n.1783-2A>G
NM_001171971.3:c.1783-2A>G NP_001165442.1:n.1783-2A>G
NM_033100.3:c.1783-2A>G NP_149091.1:n.1783-2A>G
ENST00000332904.7:c.1783-2A>G ENSP00000331063.3:n.1783-2A>G
ENST00000372117.6:c.998-2A>G
ENST00000459673.1:n.213A>G
ENST00000622973.1:c.401-2A>G
ENST00000623527.3:c.1783-2A>G ENSP00000485478.1:n.1783-2A>G
XM_011540337.1:c.1957-2A>G XP_011538639.1:n.1957-2A>G
XM_011540338.1:c.1957-2A>G XP_011538640.1:n.1957-2A>G
XM_011540339.1:c.1336-2A>G XP_011538641.1:n.1336-2A>G
XM_011540340.1:c.*44-2A>G XP_011538642.1:n.*44-2A>G
XM_011540340.3:c.*44-2A>G XP_011538642.1:n.*44-2A>G