Canonical Allele Identifier: CA377373883
Community Standard Title: NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84205892C>T , CM000672.2:g.84205892C>T GRCh38
NC_000010.10:g.85965648C>T , CM000672.1:g.85965648C>T GRCh37
NC_000010.9:g.85955628C>T NCBI36
NG_028034.1:g.16237C>T

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.928C>T MANE Select NP_149091.1:p.Gln310Ter
ENST00000623527.4:c.928C>T MANE Select ENSP00000485478.1:p.Gln310Ter
NM_001171971.2:c.928C>T NP_001165442.1:p.Gln310Ter
NM_001171971.3:c.928C>T NP_001165442.1:p.Gln310Ter
NM_033100.3:c.928C>T NP_149091.1:p.Gln310Ter
ENST00000332904.7:c.928C>T ENSP00000331063.3:p.Gln310Ter
ENST00000372117.6:c.308C>T
ENST00000623527.3:c.928C>T ENSP00000485478.1:p.Gln310Ter
ENST00000624091.1:c.214C>T
XM_011540337.1:c.1102C>T XP_011538639.1:p.Gln368Ter
XM_011540338.1:c.1102C>T XP_011538640.1:p.Gln368Ter
XM_011540339.1:c.481C>T XP_011538641.1:p.Gln161Ter
XM_011540340.1:c.1102C>T XP_011538642.1:p.Gln368Ter
XM_011540340.3:c.1102C>T XP_011538642.1:p.Gln368Ter