Canonical Allele Identifier: CA377376746
Community Standard Title: NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84211061C>T , CM000672.2:g.84211061C>T GRCh38
NC_000010.10:g.85970817C>T , CM000672.1:g.85970817C>T GRCh37
NC_000010.9:g.85960797C>T NCBI36
NG_028034.1:g.21406C>T

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.1381C>T MANE Select NP_149091.1:p.Gln461Ter
ENST00000623527.4:c.1381C>T MANE Select ENSP00000485478.1:p.Gln461Ter
NM_001171971.2:c.1381C>T NP_001165442.1:p.Gln461Ter
NM_001171971.3:c.1381C>T NP_001165442.1:p.Gln461Ter
NM_033100.3:c.1381C>T NP_149091.1:p.Gln461Ter
ENST00000332904.7:c.1381C>T ENSP00000331063.3:p.Gln461Ter
ENST00000372117.6:c.701-587C>T
ENST00000622973.1:c.114C>T
ENST00000623527.3:c.1381C>T ENSP00000485478.1:p.Gln461Ter
XM_011540337.1:c.1555C>T XP_011538639.1:p.Gln519Ter
XM_011540338.1:c.1555C>T XP_011538640.1:p.Gln519Ter
XM_011540339.1:c.934C>T XP_011538641.1:p.Gln312Ter
XM_011540340.1:c.1555C>T XP_011538642.1:p.Gln519Ter
XM_011540340.3:c.1555C>T XP_011538642.1:p.Gln519Ter