Canonical Allele Identifier: CA377370502
Community Standard Title: NM_033100.4(CDHR1):c.297+1G>A
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84196651G>A , CM000672.2:g.84196651G>A GRCh38
NC_000010.10:g.85956407G>A , CM000672.1:g.85956407G>A GRCh37
NC_000010.9:g.85946387G>A NCBI36
NG_028034.1:g.6996G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.297+1G>A MANE Select NP_149091.1:n.297+1G>A
ENST00000623527.4:c.297+1G>A MANE Select ENSP00000485478.1:n.297+1G>A
NM_001171971.2:c.297+1G>A NP_001165442.1:n.297+1G>A
NM_001171971.3:c.297+1G>A NP_001165442.1:n.297+1G>A
NM_033100.3:c.297+1G>A NP_149091.1:n.297+1G>A
ENST00000332904.7:c.297+1G>A ENSP00000331063.3:n.297+1G>A
ENST00000623527.3:c.297+1G>A ENSP00000485478.1:n.297+1G>A
XM_011540337.1:c.471+1G>A XP_011538639.1:n.471+1G>A
XM_011540338.1:c.471+1G>A XP_011538640.1:n.471+1G>A
XM_011540339.1:c.-83+1G>A XP_011538641.1:n.-83+1G>A
XM_011540340.1:c.471+1G>A XP_011538642.1:n.471+1G>A
XM_011540340.3:c.471+1G>A XP_011538642.1:n.471+1G>A