Canonical Allele Identifier: CA377373546
Community Standard Title: NM_033100.4(CDHR1):c.862+1G>T
Gene: CDHR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.84204606G>T , CM000672.2:g.84204606G>T GRCh38
NC_000010.10:g.85964362G>T , CM000672.1:g.85964362G>T GRCh37
NC_000010.9:g.85954342G>T NCBI36
NG_028034.1:g.14951G>T

Transcript Alleles

HGVS Amino-acid Change
NM_033100.4:c.862+1G>T MANE Select NP_149091.1:n.862+1G>T
ENST00000623527.4:c.862+1G>T MANE Select ENSP00000485478.1:n.862+1G>T
NM_001171971.2:c.862+1G>T NP_001165442.1:n.862+1G>T
NM_001171971.3:c.862+1G>T NP_001165442.1:n.862+1G>T
NM_033100.3:c.862+1G>T NP_149091.1:n.862+1G>T
ENST00000332904.7:c.862+1G>T ENSP00000331063.3:n.862+1G>T
ENST00000372117.6:c.242+1G>T
ENST00000623527.3:c.862+1G>T ENSP00000485478.1:n.862+1G>T
ENST00000624091.1:c.53+1G>T
XM_011540337.1:c.1036+1G>T XP_011538639.1:n.1036+1G>T
XM_011540338.1:c.1036+1G>T XP_011538640.1:n.1036+1G>T
XM_011540339.1:c.415+1G>T XP_011538641.1:n.415+1G>T
XM_011540340.1:c.1036+1G>T XP_011538642.1:n.1036+1G>T
XM_011540340.3:c.1036+1G>T XP_011538642.1:n.1036+1G>T