Canonical Allele Identifier: CA346894
Gene: RELN HGNC NCBI

Linked Data

ClinVar Variation Id: 199432
ClinVar RCV Id: RCV000180785
dbSNP Id: rs794727996
MyVariant Identifiers: chr7:g.103275945G>T (hg19) chr7:g.103635498G>T (hg38)
PubMed: PMID:20301709 PMID:26046367
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103635498G>T , CM000669.2:g.103635498G>T GRCh38
NC_000007.13:g.103275945G>T , CM000669.1:g.103275945G>T GRCh37
NC_000007.12:g.103063181G>T NCBI36
NG_011877.1:g.359019C>A
NG_011877.2:g.359019C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000424685.3:c.2392C>A ENSP00000388446.3:p.His798Asn
ENST00000428762.6:c.2392C>A MANE Select ENSP00000392423.1:p.His798Asn
ENST00000473457.2:n.2656C>A
ENST00000679867.1:n.2276C>A
ENST00000680706.1:n.95C>A
ENST00000680712.1:n.2109C>A
ENST00000681034.1:c.2392C>A ENSP00000506075.1:p.His798Asn
ENST00000343529.9:c.2392C>A ENSP00000345694.5:p.His798Asn
ENST00000424685.2:c.2392C>A ENSP00000388446.2:p.His798Asn
ENST00000428762.5:c.2392C>A ENSP00000392423.1:p.His798Asn
NM_005045.3:c.2392C>A NP_005036.2:p.His798Asn
NM_173054.2:c.2392C>A NP_774959.1:p.His798Asn
NM_005045.4:c.2392C>A MANE Select NP_005036.2:p.His798Asn
NM_173054.3:c.2392C>A NP_774959.1:p.His798Asn
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