Canonical Allele Identifier: CA378989388

Gene: CDHR5

Linked Data

• dbSNP Id: rs2740375
• gnomAD v4: 11-618998-G-C
• MyVariant Identifiers: chr11:g.618998G>C (hg19) ; chr11:g.618998G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.618998G>C , CM000673.2:g.618998G>C	GRCh38
NC_000011.9:g.618998G>C , CM000673.1:g.618998G>C	GRCh37
NC_000011.8:g.608998G>C	NCBI36
NG_029106.1:g.2002C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000358353.8:c.1543C>G	ENSP00000351118.4:p.Pro515Ala
ENST00000397542.7:c.1561C>G MANE Select	ENSP00000380676.2:p.Pro521Ala
ENST00000674088.1:c.1561C>G	ENSP00000501074.1:p.Pro521Ala
ENST00000349570.11:c.1378+308C>G	ENSP00000345726.7:n.1378+308C>G
ENST00000358353.7:c.1561C>G	ENSP00000351118.3:p.Pro521Ala
ENST00000397542.6:c.1561C>G	ENSP00000380676.2:p.Pro521Ala
ENST00000531177.5:c.*1393C>G	ENSP00000437255.1:n.*1393C>G
NM_001171968.1:c.1543C>G	NP_001165439.1:p.Pro515Ala
NM_021924.4:c.1561C>G	NP_068743.2:p.Pro521Ala
NM_031264.3:c.1378+308C>G	NP_112554.2:n.1378+308C>G
XM_006718253.2:c.1379-58C>G	XP_006718316.1:n.1379-58C>G
XM_011520188.1:c.1379-151C>G	XP_011518490.1:n.1379-151C>G
XM_011520189.1:c.1379-244C>G	XP_011518491.1:n.1379-244C>G
XM_011520190.1:c.1293+476C>G	XP_011518492.1:n.1293+476C>G
XM_011520191.1:c.1378+308C>G	XP_011518493.1:n.1378+308C>G
XM_006718253.3:c.1379-58C>G	XP_006718316.1:n.1379-58C>G
XM_011520188.2:c.1379-151C>G	XP_011518490.1:n.1379-151C>G
XM_011520189.2:c.1379-244C>G	XP_011518491.1:n.1379-244C>G
XM_011520190.2:c.1293+476C>G	XP_011518492.1:n.1293+476C>G
XM_011520191.2:c.1378+308C>G	XP_011518493.1:n.1378+308C>G
XM_024448584.1:c.1561C>G	XP_024304352.1:p.Pro521Ala
NM_001171968.2:c.1543C>G	NP_001165439.2:p.Pro515Ala
NM_021924.5:c.1561C>G MANE Select	NP_068743.3:p.Pro521Ala
NM_031264.4:c.1378+308C>G	NP_112554.3:n.1378+308C>G
NM_001171968.3:c.1543C>G	NP_001165439.2:p.Pro515Ala
NM_031264.5:c.1378+308C>G	NP_112554.3:n.1378+308C>G