Canonical Allele Identifier: CA4420743
Gene: RELN HGNC NCBI

Linked Data

ClinVar Variation Id: 2935258
ClinVar RCV Id: RCV003790912
dbSNP Id: rs370008362

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103523467T>C , CM000669.2:g.103523467T>C GRCh38
NC_000007.13:g.103163914T>C , CM000669.1:g.103163914T>C GRCh37
NC_000007.12:g.102951150T>C NCBI36
NG_011877.1:g.471050A>G
NG_011877.2:g.471050A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000424685.3:c.7414A>G ENSP00000388446.3:p.Ile2472Val
ENST00000428762.6:c.7414A>G MANE Select ENSP00000392423.1:p.Ile2472Val
ENST00000478148.2:n.655A>G
ENST00000679867.1:n.7298A>G
ENST00000679952.1:n.1342A>G
ENST00000681034.1:c.7414A>G ENSP00000506075.1:p.Ile2472Val
ENST00000681364.1:n.663A>G
ENST00000343529.9:c.7414A>G ENSP00000345694.5:p.Ile2472Val
ENST00000424685.2:c.7414A>G ENSP00000388446.2:p.Ile2472Val
ENST00000428762.5:c.7414A>G ENSP00000392423.1:p.Ile2472Val
NM_005045.3:c.7414A>G NP_005036.2:p.Ile2472Val
NM_173054.2:c.7414A>G NP_774959.1:p.Ile2472Val
NM_005045.4:c.7414A>G MANE Select NP_005036.2:p.Ile2472Val
NM_173054.3:c.7414A>G NP_774959.1:p.Ile2472Val