Canonical Allele Identifier: CA457030975

Gene: RELN

Linked Data

• ClinVar Variation Id: 2073820
• ClinVar RCV Id: RCV002944160
• dbSNP Id: rs1286198088
• gnomAD v2: 7-103185701-C-T
• gnomAD v3: 7-103545254-C-T
• gnomAD v4: 7-103545254-C-T
• MyVariant Identifiers: chr7:g.103185701C>T (hg19) ; chr7:g.103545254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545254C>T , CM000669.2:g.103545254C>T	GRCh38
NC_000007.13:g.103185701C>T , CM000669.1:g.103185701C>T	GRCh37
NC_000007.12:g.102972937C>T	NCBI36
NG_011877.1:g.449263G>A
NG_011877.2:g.449263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6393G>A	ENSP00000388446.3:p.Gln2131=
ENST00000428762.6:c.6393G>A MANE Select	ENSP00000392423.1:p.Gln2131=
ENST00000679867.1:n.6277G>A
ENST00000679952.1:n.185G>A
ENST00000681034.1:c.6393G>A	ENSP00000506075.1:p.Gln2131=
ENST00000681199.1:n.2161G>A
ENST00000343529.9:c.6393G>A	ENSP00000345694.5:p.Gln2131=
ENST00000424685.2:c.6393G>A	ENSP00000388446.2:p.Gln2131=
ENST00000428762.5:c.6393G>A	ENSP00000392423.1:p.Gln2131=
NM_005045.3:c.6393G>A	NP_005036.2:p.Gln2131=
NM_173054.2:c.6393G>A	NP_774959.1:p.Gln2131=
NM_005045.4:c.6393G>A MANE Select	NP_005036.2:p.Gln2131=
NM_173054.3:c.6393G>A	NP_774959.1:p.Gln2131=