Canonical Allele Identifier: CA163930687

Gene: RELN

Linked Data

• ClinVar Variation Id: 1246878
• ClinVar RCV Id: RCV001656224
• dbSNP Id: rs41275233
• gnomAD v2: 7-103164167-C-T
• gnomAD v3: 7-103523720-C-T
• gnomAD v4: 7-103523720-C-T
• MyVariant Identifiers: chr7:g.103164167C>T (hg19) ; chr7:g.103523720C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523720C>T , CM000669.2:g.103523720C>T	GRCh38
NC_000007.13:g.103164167C>T , CM000669.1:g.103164167C>T	GRCh37
NC_000007.12:g.102951403C>T	NCBI36
NG_011877.1:g.470797G>A
NG_011877.2:g.470797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7350-189G>A	ENSP00000388446.3:n.7350-189G>A
ENST00000428762.6:c.7350-189G>A MANE Select	ENSP00000392423.1:n.7350-189G>A
ENST00000478148.2:n.591-189G>A
ENST00000679867.1:n.7234-189G>A
ENST00000679952.1:n.1278-189G>A
ENST00000681034.1:c.7350-189G>A	ENSP00000506075.1:n.7350-189G>A
ENST00000681364.1:n.599-189G>A
ENST00000343529.9:c.7350-189G>A	ENSP00000345694.5:n.7350-189G>A
ENST00000424685.2:c.7350-189G>A	ENSP00000388446.2:n.7350-189G>A
ENST00000428762.5:c.7350-189G>A	ENSP00000392423.1:n.7350-189G>A
ENST00000478148.1:n.581-189G>A
NM_005045.3:c.7350-189G>A	NP_005036.2:n.7350-189G>A
NM_173054.2:c.7350-189G>A	NP_774959.1:n.7350-189G>A
NM_005045.4:c.7350-189G>A MANE Select	NP_005036.2:n.7350-189G>A
NM_173054.3:c.7350-189G>A	NP_774959.1:n.7350-189G>A