Canonical Allele Identifier: CA148345
Gene: RELN HGNC NCBI
COSMIC:
COSM5425894 (not active)
MyVariant.info:
GRCh38 chr7:g.103749507A>G
GRCh37 chr7:g.103389954A>G
gnomAD v2:
7:103389954 A / G
gnomAD v3:
7:103749507 A / G
gnomAD v4:
chr7-103749507-A-G
Joint Max Group AF 0.55599459 (NFE)
Genomes Max Group AF 0.5437677 (NFE)
Exomes Max Group AF 0.55649643 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103749507A>G , CM000669.2:g.103749507A>G GRCh38
NC_000007.13:g.103389954A>G , CM000669.1:g.103389954A>G GRCh37
NC_000007.12:g.103177190A>G NCBI36
NG_011877.1:g.245010T>C
NG_011877.2:g.245010T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.578-3T>C ENSP00000388446.3:n.578-3T>C
ENST00000428762.6:c.578-3T>C MANE Select ENSP00000392423.1:n.578-3T>C
ENST00000473457.2:n.842-3T>C
ENST00000679867.1:n.462-3T>C
ENST00000680712.1:n.392-3T>C
ENST00000681034.1:c.578-3T>C ENSP00000506075.1:n.578-3T>C
ENST00000681401.1:n.854-3T>C
ENST00000681931.1:n.462-3T>C
ENST00000343529.9:c.578-3T>C ENSP00000345694.5:n.578-3T>C
ENST00000424685.2:c.578-3T>C ENSP00000388446.2:n.578-3T>C
ENST00000428762.5:c.578-3T>C ENSP00000392423.1:n.578-3T>C
NM_005045.3:c.578-3T>C NP_005036.2:n.578-3T>C
NM_173054.2:c.578-3T>C NP_774959.1:n.578-3T>C
NM_005045.4:c.578-3T>C MANE Select NP_005036.2:n.578-3T>C
NM_173054.3:c.578-3T>C NP_774959.1:n.578-3T>C
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