Canonical Allele Identifier: CA154914
Gene: RELN HGNC NCBI
COSMIC:
COSM4004231 (not active)
MyVariant.info:
GRCh38 chr7:g.103610714G>C
GRCh37 chr7:g.103251161G>C
Revel Score:
ENST00000428762 (MANE Select) 0.048
ENST00000343529 0.048
ENST00000424685 0.048
ENST00000448171 0.048
gnomAD v2:
7:103251161 G / C
gnomAD v3:
7:103610714 G / C
gnomAD v4:
chr7-103610714-G-C
Joint Max Group AF 0.15506055 (SAS)
Genomes Max Group AF 0.15885944 (SAS)
Exomes Max Group AF 0.15437173 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103610714G>C , CM000669.2:g.103610714G>C GRCh38
NC_000007.13:g.103251161G>C , CM000669.1:g.103251161G>C GRCh37
NC_000007.12:g.103038397G>C NCBI36
NG_011877.1:g.383803C>G
NG_011877.2:g.383803C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.2989C>G ENSP00000388446.3:p.Leu997Val
ENST00000428762.6:c.2989C>G MANE Select ENSP00000392423.1:p.Leu997Val
ENST00000679867.1:n.2873C>G
ENST00000680706.1:n.692C>G
ENST00000681034.1:c.2989C>G ENSP00000506075.1:p.Leu997Val
ENST00000343529.9:c.2989C>G ENSP00000345694.5:p.Leu997Val
ENST00000424685.2:c.2989C>G ENSP00000388446.2:p.Leu997Val
ENST00000428762.5:c.2989C>G ENSP00000392423.1:p.Leu997Val
NM_005045.3:c.2989C>G NP_005036.2:p.Leu997Val
NM_173054.2:c.2989C>G NP_774959.1:p.Leu997Val
NM_005045.4:c.2989C>G MANE Select NP_005036.2:p.Leu997Val
NM_173054.3:c.2989C>G NP_774959.1:p.Leu997Val
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