Canonical Allele Identifier: CA1730773428

Gene: RELN

Linked Data

• ClinVar Variation Id: 2002090
• ClinVar RCV Id: RCV002832902
• dbSNP Id: rs764690009
• gnomAD v4: 7-103523383-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523383C>A , CM000669.2:g.103523383C>A	GRCh38
NC_000007.13:g.103163830C>A , CM000669.1:g.103163830C>A	GRCh37
NC_000007.12:g.102951066C>A	NCBI36
NG_011877.1:g.471134G>T
NG_011877.2:g.471134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7490+8G>T	ENSP00000388446.3:n.7490+8G>T
ENST00000428762.6:c.7490+8G>T MANE Select	ENSP00000392423.1:n.7490+8G>T
ENST00000478148.2:n.739G>T
ENST00000679867.1:n.7374+8G>T
ENST00000679952.1:n.1418+8G>T
ENST00000681034.1:c.7490+8G>T	ENSP00000506075.1:n.7490+8G>T
ENST00000681364.1:n.739+8G>T
ENST00000343529.9:c.7490+8G>T	ENSP00000345694.5:n.7490+8G>T
ENST00000424685.2:c.7490+8G>T	ENSP00000388446.2:n.7490+8G>T
ENST00000428762.5:c.7490+8G>T	ENSP00000392423.1:n.7490+8G>T
NM_005045.3:c.7490+8G>T	NP_005036.2:n.7490+8G>T
NM_173054.2:c.7490+8G>T	NP_774959.1:n.7490+8G>T
NM_005045.4:c.7490+8G>T MANE Select	NP_005036.2:n.7490+8G>T
NM_173054.3:c.7490+8G>T	NP_774959.1:n.7490+8G>T