Canonical Allele Identifier: CA4420965

Gene: RELN

Linked Data

• ClinVar Variation Id: 1158123
• ClinVar RCV Id: RCV001501452
• dbSNP Id: rs762802659
• ExAC: 7:103185710 G / A
• gnomAD v2: 7-103185710-G-A
• gnomAD v3: 7-103545263-G-A
• gnomAD v4: 7-103545263-G-A
• MyVariant Identifiers: chr7:g.103185710G>A (hg19) ; chr7:g.103545263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545263G>A , CM000669.2:g.103545263G>A	GRCh38
NC_000007.13:g.103185710G>A , CM000669.1:g.103185710G>A	GRCh37
NC_000007.12:g.102972946G>A	NCBI36
NG_011877.1:g.449254C>T
NG_011877.2:g.449254C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6384C>T	ENSP00000388446.3:p.Ile2128=
ENST00000428762.6:c.6384C>T MANE Select	ENSP00000392423.1:p.Ile2128=
ENST00000679867.1:n.6268C>T
ENST00000679952.1:n.176C>T
ENST00000681034.1:c.6384C>T	ENSP00000506075.1:p.Ile2128=
ENST00000681199.1:n.2152C>T
ENST00000343529.9:c.6384C>T	ENSP00000345694.5:p.Ile2128=
ENST00000424685.2:c.6384C>T	ENSP00000388446.2:p.Ile2128=
ENST00000428762.5:c.6384C>T	ENSP00000392423.1:p.Ile2128=
NM_005045.3:c.6384C>T	NP_005036.2:p.Ile2128=
NM_173054.2:c.6384C>T	NP_774959.1:p.Ile2128=
NM_005045.4:c.6384C>T MANE Select	NP_005036.2:p.Ile2128=
NM_173054.3:c.6384C>T	NP_774959.1:p.Ile2128=