Canonical Allele Identifier: CA4420746

Gene: RELN

Linked Data

• ClinVar Variation Id: 2294594
• ClinVar RCV Id: RCV002841918
• dbSNP Id: rs750386872
• ExAC: 7:103163959 G / A
• gnomAD v2: 7-103163959-G-A
• gnomAD v3: 7-103523512-G-A
• gnomAD v4: 7-103523512-G-A
• COSMIC: COSM3631567
• MyVariant Identifiers: chr7:g.103163959G>A (hg19) ; chr7:g.103523512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523512G>A , CM000669.2:g.103523512G>A	GRCh38
NC_000007.13:g.103163959G>A , CM000669.1:g.103163959G>A	GRCh37
NC_000007.12:g.102951195G>A	NCBI36
NG_011877.1:g.471005C>T
NG_011877.2:g.471005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7369C>T	ENSP00000388446.3:p.Arg2457Cys
ENST00000428762.6:c.7369C>T MANE Select	ENSP00000392423.1:p.Arg2457Cys
ENST00000478148.2:n.610C>T
ENST00000679867.1:n.7253C>T
ENST00000679952.1:n.1297C>T
ENST00000681034.1:c.7369C>T	ENSP00000506075.1:p.Arg2457Cys
ENST00000681364.1:n.618C>T
ENST00000343529.9:c.7369C>T	ENSP00000345694.5:p.Arg2457Cys
ENST00000424685.2:c.7369C>T	ENSP00000388446.2:p.Arg2457Cys
ENST00000428762.5:c.7369C>T	ENSP00000392423.1:p.Arg2457Cys
ENST00000478148.1:n.600C>T
NM_005045.3:c.7369C>T	NP_005036.2:p.Arg2457Cys
NM_173054.2:c.7369C>T	NP_774959.1:p.Arg2457Cys
NM_005045.4:c.7369C>T MANE Select	NP_005036.2:p.Arg2457Cys
NM_173054.3:c.7369C>T	NP_774959.1:p.Arg2457Cys