Canonical Allele Identifier: CA5784161
Gene: CDHR5 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.616865G>A
GRCh37 chr11:g.616865G>A
gnomAD v2:
11:616865 G / A
gnomAD v3:
11:616865 G / A
gnomAD v4:
chr11-616865-G-A
Joint Max Group AF 0.09487005 (SAS)
Genomes Max Group AF 0.10352183 (SAS)
Exomes Max Group AF 0.08116915 (SAS)
dbSNP:
3758650
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.616865G>A , CM000673.2:g.616865G>A GRCh38
NC_000011.9:g.616865G>A , CM000673.1:g.616865G>A GRCh37
NC_000011.8:g.606865G>A NCBI36
NG_029106.1:g.4135C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358353.8:c.*486C>T ENSP00000351118.4:n.*486C>T
ENST00000397542.7:c.*486C>T MANE Select ENSP00000380676.2:n.*486C>T
ENST00000358353.7:c.*486C>T ENSP00000351118.3:n.*486C>T
ENST00000397542.6:c.*486C>T ENSP00000380676.2:n.*486C>T
NM_001171968.1:c.*486C>T NP_001165439.1:n.*486C>T
NM_021924.4:c.*486C>T NP_068743.2:n.*486C>T
NM_031264.3:c.*486C>T NP_112554.2:n.*486C>T
XM_006718253.2:c.*486C>T XP_006718316.1:n.*486C>T
XM_011520188.1:c.*486C>T XP_011518490.1:n.*486C>T
XM_011520189.1:c.*486C>T XP_011518491.1:n.*486C>T
XM_011520190.1:c.*701C>T XP_011518492.1:n.*701C>T
XM_006718253.3:c.*486C>T XP_006718316.1:n.*486C>T
XM_011520188.2:c.*486C>T XP_011518490.1:n.*486C>T
XM_011520189.2:c.*486C>T XP_011518491.1:n.*486C>T
XM_011520190.2:c.*701C>T XP_011518492.1:n.*701C>T
NM_001171968.2:c.*486C>T NP_001165439.2:n.*486C>T
NM_021924.5:c.*486C>T MANE Select NP_068743.3:n.*486C>T
NM_031264.4:c.*486C>T NP_112554.3:n.*486C>T
NM_001171968.3:c.*486C>T NP_001165439.2:n.*486C>T
NM_031264.5:c.*486C>T NP_112554.3:n.*486C>T
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