Canonical Allele Identifier: CA377378781

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84213346G>T , CM000672.2:g.84213346G>T	GRCh38
NC_000010.10:g.85973102G>T , CM000672.1:g.85973102G>T	GRCh37
NC_000010.9:g.85963082G>T	NCBI36
NG_028034.1:g.23691G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.2038G>T MANE Select	NP_149091.1:p.Glu680Ter
ENST00000623527.4:c.2038G>T MANE Select	ENSP00000485478.1:p.Glu680Ter
NM_001171971.2:c.2038G>T	NP_001165442.1:p.Glu680Ter
NM_001171971.3:c.2038G>T	NP_001165442.1:p.Glu680Ter
NM_033100.3:c.2038G>T	NP_149091.1:p.Glu680Ter
ENST00000332904.7:c.2038G>T	ENSP00000331063.3:p.Glu680Ter
ENST00000372117.6:c.1253G>T
ENST00000459673.1:n.470G>T
ENST00000622973.1:c.656G>T
ENST00000623399.1:c.209G>T
ENST00000623527.3:c.2038G>T	ENSP00000485478.1:p.Glu680Ter
XM_011540337.1:c.2212G>T	XP_011538639.1:p.Glu738Ter
XM_011540338.1:c.2212G>T	XP_011538640.1:p.Glu738Ter
XM_011540339.1:c.1591G>T	XP_011538641.1:p.Glu531Ter