Canonical Allele Identifier: CA377378400

Gene: CDHR1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.84213163G>C , CM000672.2:g.84213163G>C	GRCh38
NC_000010.10:g.85972919G>C , CM000672.1:g.85972919G>C	GRCh37
NC_000010.9:g.85962899G>C	NCBI36
NG_028034.1:g.23508G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033100.4:c.1855G>C MANE Select	NP_149091.1:p.Val619Leu
ENST00000623527.4:c.1855G>C MANE Select	ENSP00000485478.1:p.Val619Leu
NM_001171971.2:c.1855G>C	NP_001165442.1:p.Val619Leu
NM_001171971.3:c.1855G>C	NP_001165442.1:p.Val619Leu
NM_033100.3:c.1855G>C	NP_149091.1:p.Val619Leu
ENST00000332904.7:c.1855G>C	ENSP00000331063.3:p.Val619Leu
ENST00000372117.6:c.1070G>C
ENST00000459673.1:n.287G>C
ENST00000622973.1:c.473G>C
ENST00000623399.1:c.26G>C
ENST00000623527.3:c.1855G>C	ENSP00000485478.1:p.Val619Leu
XM_011540337.1:c.2029G>C	XP_011538639.1:p.Val677Leu
XM_011540338.1:c.2029G>C	XP_011538640.1:p.Val677Leu
XM_011540339.1:c.1408G>C	XP_011538641.1:p.Val470Leu
XM_011540340.1:c.*116G>C	XP_011538642.1:n.*116G>C
XM_011540340.3:c.*116G>C	XP_011538642.1:n.*116G>C