Canonical Allele Identifier: CA576954960

Gene: RELN

Linked Data

• dbSNP Id: rs1428768167
• gnomAD v2: 7-103164164-A-C
• gnomAD v3: 7-103523717-A-C
• gnomAD v4: 7-103523717-A-C
• MyVariant Identifiers: chr7:g.103164164A>C (hg19) ; chr7:g.103523717A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523717A>C , CM000669.2:g.103523717A>C	GRCh38
NC_000007.13:g.103164164A>C , CM000669.1:g.103164164A>C	GRCh37
NC_000007.12:g.102951400A>C	NCBI36
NG_011877.1:g.470800T>G
NG_011877.2:g.470800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7350-186T>G	ENSP00000388446.3:n.7350-186T>G
ENST00000428762.6:c.7350-186T>G MANE Select	ENSP00000392423.1:n.7350-186T>G
ENST00000478148.2:n.591-186T>G
ENST00000679867.1:n.7234-186T>G
ENST00000679952.1:n.1278-186T>G
ENST00000681034.1:c.7350-186T>G	ENSP00000506075.1:n.7350-186T>G
ENST00000681364.1:n.599-186T>G
ENST00000343529.9:c.7350-186T>G	ENSP00000345694.5:n.7350-186T>G
ENST00000424685.2:c.7350-186T>G	ENSP00000388446.2:n.7350-186T>G
ENST00000428762.5:c.7350-186T>G	ENSP00000392423.1:n.7350-186T>G
ENST00000478148.1:n.581-186T>G
NM_005045.3:c.7350-186T>G	NP_005036.2:n.7350-186T>G
NM_173054.2:c.7350-186T>G	NP_774959.1:n.7350-186T>G
NM_005045.4:c.7350-186T>G MANE Select	NP_005036.2:n.7350-186T>G
NM_173054.3:c.7350-186T>G	NP_774959.1:n.7350-186T>G