Canonical Allele Identifier: CA4422009

Gene: RELN

Linked Data

• ClinVar Variation Id: 542601
• ClinVar RCV Id: RCV000653058
• dbSNP Id: rs148510862
• ExAC: 7:103275985 C / T
• gnomAD v2: 7-103275985-C-T
• gnomAD v3: 7-103635538-C-T
• gnomAD v4: 7-103635538-C-T
• MyVariant Identifiers: chr7:g.103275985C>T (hg19) ; chr7:g.103635538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103635538C>T , CM000669.2:g.103635538C>T	GRCh38
NC_000007.13:g.103275985C>T , CM000669.1:g.103275985C>T	GRCh37
NC_000007.12:g.103063221C>T	NCBI36
NG_011877.1:g.358979G>A
NG_011877.2:g.358979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.2352G>A	ENSP00000388446.3:p.Thr784=
ENST00000428762.6:c.2352G>A MANE Select	ENSP00000392423.1:p.Thr784=
ENST00000473457.2:n.2616G>A
ENST00000679867.1:n.2236G>A
ENST00000680706.1:n.55G>A
ENST00000680712.1:n.2069G>A
ENST00000681034.1:c.2352G>A	ENSP00000506075.1:p.Thr784=
ENST00000343529.9:c.2352G>A	ENSP00000345694.5:p.Thr784=
ENST00000424685.2:c.2352G>A	ENSP00000388446.2:p.Thr784=
ENST00000428762.5:c.2352G>A	ENSP00000392423.1:p.Thr784=
NM_005045.3:c.2352G>A	NP_005036.2:p.Thr784=
NM_173054.2:c.2352G>A	NP_774959.1:p.Thr784=
NM_005045.4:c.2352G>A MANE Select	NP_005036.2:p.Thr784=
NM_173054.3:c.2352G>A	NP_774959.1:p.Thr784=