Canonical Allele Identifier: CA10629276
Community Standard Title: NM_033100.4(CDHR1):c.1320+11C>T
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84208892C>T , CM000672.2:g.84208892C>T GRCh38
NC_000010.10:g.85968648C>T , CM000672.1:g.85968648C>T GRCh37
NC_000010.9:g.85958628C>T NCBI36
NG_028034.1:g.19237C>T

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.1320+11C>T MANE Select NP_149091.1:n.1320+11C>T
ENST00000623527.4:c.1320+11C>T MANE Select ENSP00000485478.1:n.1320+11C>T
NM_001171971.2:c.1320+11C>T NP_001165442.1:n.1320+11C>T
NM_001171971.3:c.1320+11C>T NP_001165442.1:n.1320+11C>T
NM_033100.3:c.1320+11C>T NP_149091.1:n.1320+11C>T
ENST00000332904.7:c.1320+11C>T ENSP00000331063.3:n.1320+11C>T
ENST00000372117.6:c.700+11C>T
ENST00000622973.1:c.53+11C>T
ENST00000623527.3:c.1320+11C>T ENSP00000485478.1:n.1320+11C>T
XM_011540337.1:c.1494+11C>T XP_011538639.1:n.1494+11C>T
XM_011540338.1:c.1494+11C>T XP_011538640.1:n.1494+11C>T
XM_011540339.1:c.873+11C>T XP_011538641.1:n.873+11C>T
XM_011540340.1:c.1494+11C>T XP_011538642.1:n.1494+11C>T
XM_011540340.3:c.1494+11C>T XP_011538642.1:n.1494+11C>T