Canonical Allele Identifier: CA4420974

Gene: RELN

Linked Data

• ClinVar Variation Id: 2417771
• ClinVar RCV Id: RCV003117880
• dbSNP Id: rs780370644
• ExAC: 7:103185787 C / T
• gnomAD v2: 7-103185787-C-T
• gnomAD v3: 7-103545340-C-T
• gnomAD v4: 7-103545340-C-T
• MyVariant Identifiers: chr7:g.103185787C>T (hg19) ; chr7:g.103545340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545340C>T , CM000669.2:g.103545340C>T	GRCh38
NC_000007.13:g.103185787C>T , CM000669.1:g.103185787C>T	GRCh37
NC_000007.12:g.102973023C>T	NCBI36
NG_011877.1:g.449177G>A
NG_011877.2:g.449177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6307G>A	ENSP00000388446.3:p.Val2103Ile
ENST00000428762.6:c.6307G>A MANE Select	ENSP00000392423.1:p.Val2103Ile
ENST00000679867.1:n.6191G>A
ENST00000679952.1:n.99G>A
ENST00000681034.1:c.6307G>A	ENSP00000506075.1:p.Val2103Ile
ENST00000681199.1:n.2075G>A
ENST00000343529.9:c.6307G>A	ENSP00000345694.5:p.Val2103Ile
ENST00000424685.2:c.6307G>A	ENSP00000388446.2:p.Val2103Ile
ENST00000428762.5:c.6307G>A	ENSP00000392423.1:p.Val2103Ile
NM_005045.3:c.6307G>A	NP_005036.2:p.Val2103Ile
NM_173054.2:c.6307G>A	NP_774959.1:p.Val2103Ile
NM_005045.4:c.6307G>A MANE Select	NP_005036.2:p.Val2103Ile
NM_173054.3:c.6307G>A	NP_774959.1:p.Val2103Ile