Canonical Allele Identifier: CA10636266

Gene: CDHR1

Linked Data

• ClinVar Variation Id: 301267
• ClinVar RCV Id: RCV000371591
• dbSNP Id: rs375246992
• gnomAD v2: 10-85974646-C-T
• gnomAD v3: 10-84214890-C-T
• gnomAD v4: 10-84214890-C-T
• MyVariant Identifiers: chr10:g.85974646C>T (hg19) ; chr10:g.84214890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84214890C>T , CM000672.2:g.84214890C>T	GRCh38
NC_000010.10:g.85974646C>T , CM000672.1:g.85974646C>T	GRCh37
NC_000010.9:g.85964626C>T	NCBI36
NG_028034.1:g.25235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623527.4:c.*269C>T MANE Select	ENSP00000485478.1:n.*269C>T
ENST00000332904.7:c.2040+1542C>T	ENSP00000331063.3:n.2040+1542C>T
ENST00000372117.6:c.2064C>T
ENST00000459673.1:n.1281C>T
ENST00000623399.1:c.211+1542C>T
ENST00000623527.3:c.*269C>T	ENSP00000485478.1:n.*269C>T
NM_001171971.2:c.2040+1542C>T	NP_001165442.1:n.2040+1542C>T
NM_033100.3:c.*269C>T	NP_149091.1:n.*269C>T
XM_011540337.1:c.*269C>T	XP_011538639.1:n.*269C>T
XM_011540338.1:c.2214+1542C>T	XP_011538640.1:n.2214+1542C>T
XM_011540339.1:c.*269C>T	XP_011538641.1:n.*269C>T
NM_033100.4:c.*269C>T MANE Select	NP_149091.1:n.*269C>T
NM_001171971.3:c.2040+1542C>T	NP_001165442.1:n.2040+1542C>T