Canonical Allele Identifier: CA678973283
Gene: CDHR5 HGNC NCBI

Linked Data

dbSNP Id: rs1350682705
gnomAD v3: 11-616774-G-A
gnomAD v4: 11-616774-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.616774G>A , CM000673.2:g.616774G>A GRCh38
NC_000011.9:g.616774G>A , CM000673.1:g.616774G>A GRCh37
NC_000011.8:g.606774G>A NCBI36
NG_029106.1:g.4226C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358353.8:c.*577C>T ENSP00000351118.4:n.*577C>T
ENST00000397542.7:c.*577C>T MANE Select ENSP00000380676.2:n.*577C>T
ENST00000358353.7:c.*577C>T ENSP00000351118.3:n.*577C>T
ENST00000397542.6:c.*577C>T ENSP00000380676.2:n.*577C>T
NM_001171968.1:c.*577C>T NP_001165439.1:n.*577C>T
NM_021924.4:c.*577C>T NP_068743.2:n.*577C>T
NM_031264.3:c.*577C>T NP_112554.2:n.*577C>T
XM_006718253.2:c.*577C>T XP_006718316.1:n.*577C>T
XM_011520188.1:c.*577C>T XP_011518490.1:n.*577C>T
XM_011520189.1:c.*577C>T XP_011518491.1:n.*577C>T
XM_011520190.1:c.*792C>T XP_011518492.1:n.*792C>T
XM_006718253.3:c.*577C>T XP_006718316.1:n.*577C>T
XM_011520188.2:c.*577C>T XP_011518490.1:n.*577C>T
XM_011520189.2:c.*577C>T XP_011518491.1:n.*577C>T
XM_011520190.2:c.*792C>T XP_011518492.1:n.*792C>T
NM_001171968.2:c.*577C>T NP_001165439.2:n.*577C>T
NM_021924.5:c.*577C>T MANE Select NP_068743.3:n.*577C>T
NM_031264.4:c.*577C>T NP_112554.3:n.*577C>T
NM_001171968.3:c.*577C>T NP_001165439.2:n.*577C>T
NM_031264.5:c.*577C>T NP_112554.3:n.*577C>T