Canonical Allele Identifier: CA678973295
Gene: CDHR5 HGNC NCBI

Linked Data

dbSNP Id: rs1189241815
gnomAD v3: 11-616792-C-G
gnomAD v4: 11-616792-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.616792C>G , CM000673.2:g.616792C>G GRCh38
NC_000011.9:g.616792C>G , CM000673.1:g.616792C>G GRCh37
NC_000011.8:g.606792C>G NCBI36
NG_029106.1:g.4208G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000358353.8:c.*559G>C ENSP00000351118.4:n.*559G>C
ENST00000397542.7:c.*559G>C MANE Select ENSP00000380676.2:n.*559G>C
ENST00000358353.7:c.*559G>C ENSP00000351118.3:n.*559G>C
ENST00000397542.6:c.*559G>C ENSP00000380676.2:n.*559G>C
NM_001171968.1:c.*559G>C NP_001165439.1:n.*559G>C
NM_021924.4:c.*559G>C NP_068743.2:n.*559G>C
NM_031264.3:c.*559G>C NP_112554.2:n.*559G>C
XM_006718253.2:c.*559G>C XP_006718316.1:n.*559G>C
XM_011520188.1:c.*559G>C XP_011518490.1:n.*559G>C
XM_011520189.1:c.*559G>C XP_011518491.1:n.*559G>C
XM_011520190.1:c.*774G>C XP_011518492.1:n.*774G>C
XM_006718253.3:c.*559G>C XP_006718316.1:n.*559G>C
XM_011520188.2:c.*559G>C XP_011518490.1:n.*559G>C
XM_011520189.2:c.*559G>C XP_011518491.1:n.*559G>C
XM_011520190.2:c.*774G>C XP_011518492.1:n.*774G>C
NM_001171968.2:c.*559G>C NP_001165439.2:n.*559G>C
NM_021924.5:c.*559G>C MANE Select NP_068743.3:n.*559G>C
NM_031264.4:c.*559G>C NP_112554.3:n.*559G>C
NM_001171968.3:c.*559G>C NP_001165439.2:n.*559G>C
NM_031264.5:c.*559G>C NP_112554.3:n.*559G>C