ClinGen Allele Registry
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Canonical Allele Identifier:
CA7068106
Gene: LINC00452
HGNC
NCBI
Linked Data - Expert Curation
COSMIC:
COSN15627913 (not active)
COSN15635011 (not active)
COSN15636701 (not active)
COSN15637566 (not active)
COSN15643341 (not active)
COSN23013762 (not active)
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr13:g.113919624A>G
GRCh37
chr13:g.114622597A>G
Linked Data - Sequence & Population
gnomAD v2:
13:114622597 A / G
gnomAD v3:
13:113919624 A / G
gnomAD v4:
chr13-113919624-A-G
Joint Max Group AF
0.39654097 (AFR)
Genomes Max Group AF
0.39161015 (AFR)
Exomes Max Group AF
0.40053381 (AFR)
Linked Data - NCBI & NCI
dbSNP:
9604529
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.113919624A>G , CM000675.2:g.113919624A>G
GRCh38
NC_000013.10:g.114622597A>G , CM000675.1:g.114622597A>G
GRCh37
NC_000013.9:g.113491346T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_001278674.1:c.503A>G
NP_001265603.1:p.Asn168Ser
XM_011534843.1:c.701A>G
XP_011533145.1:p.Asn234Ser
XR_941409.1:n.875A>G
XR_941410.1:n.875A>G
XR_941411.1:n.875A>G
XR_941412.1:n.875A>G
XR_941413.1:n.872A>G
XR_941414.1:n.2055A>G
XR_941415.1:n.945A>G
XR_941416.1:n.2016A>G
XR_941417.1:n.1954A>G
XR_941418.1:n.1949A>G
XR_941419.1:n.1810A>G
XR_941420.1:n.1795A>G
XR_941421.1:n.651A>G
XR_001749638.1:n.651A>G
XR_001749639.1:n.651A>G
XR_941421.2:n.651A>G
NR_164112.1:n.1111A>G
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