Canonical Allele Identifier: CA368767731

Gene: RELN

Linked Data

• ClinVar Variation Id: 2947975
• ClinVar RCV Id: RCV003806797
• dbSNP Id: rs1177274775
• gnomAD v2: 7-103163868-C-G
• gnomAD v3: 7-103523421-C-G
• gnomAD v4: 7-103523421-C-G
• MyVariant Identifiers: chr7:g.103163868C>G (hg19) ; chr7:g.103523421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523421C>G , CM000669.2:g.103523421C>G	GRCh38
NC_000007.13:g.103163868C>G , CM000669.1:g.103163868C>G	GRCh37
NC_000007.12:g.102951104C>G	NCBI36
NG_011877.1:g.471096G>C
NG_011877.2:g.471096G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7460G>C	ENSP00000388446.3:p.Gly2487Ala
ENST00000428762.6:c.7460G>C MANE Select	ENSP00000392423.1:p.Gly2487Ala
ENST00000478148.2:n.701G>C
ENST00000679867.1:n.7344G>C
ENST00000679952.1:n.1388G>C
ENST00000681034.1:c.7460G>C	ENSP00000506075.1:p.Gly2487Ala
ENST00000681364.1:n.709G>C
ENST00000343529.9:c.7460G>C	ENSP00000345694.5:p.Gly2487Ala
ENST00000424685.2:c.7460G>C	ENSP00000388446.2:p.Gly2487Ala
ENST00000428762.5:c.7460G>C	ENSP00000392423.1:p.Gly2487Ala
NM_005045.3:c.7460G>C	NP_005036.2:p.Gly2487Ala
NM_173054.2:c.7460G>C	NP_774959.1:p.Gly2487Ala
NM_005045.4:c.7460G>C MANE Select	NP_005036.2:p.Gly2487Ala
NM_173054.3:c.7460G>C	NP_774959.1:p.Gly2487Ala