Canonical Allele Identifier: CA12642315

Gene: RELN

Linked Data

• dbSNP Id: rs39395
• gnomAD v2: 7-103489729-G-A
• gnomAD v3: 7-103849282-G-A
• gnomAD v4: 7-103849282-G-A
• MyVariant Identifiers: chr7:g.103489729G>A (hg19) ; chr7:g.103849282G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103849282G>A , CM000669.2:g.103849282G>A	GRCh38
NC_000007.13:g.103489729G>A , CM000669.1:g.103489729G>A	GRCh37
NC_000007.12:g.103276965G>A	NCBI36
NG_011877.1:g.145235C>T
NG_011877.2:g.145235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.338-15610C>T	ENSP00000388446.3:n.338-15610C>T
ENST00000428762.6:c.338-15610C>T MANE Select	ENSP00000392423.1:n.338-15610C>T
ENST00000473457.2:n.602-15610C>T
ENST00000679867.1:n.222-15610C>T
ENST00000680712.1:n.152-15610C>T
ENST00000681034.1:c.338-15610C>T	ENSP00000506075.1:n.338-15610C>T
ENST00000681401.1:n.614-15610C>T
ENST00000681931.1:n.222-15610C>T
ENST00000343529.9:c.338-15610C>T	ENSP00000345694.5:n.338-15610C>T
ENST00000424685.2:c.338-15610C>T	ENSP00000388446.2:n.338-15610C>T
ENST00000428762.5:c.338-15610C>T	ENSP00000392423.1:n.338-15610C>T
NM_005045.3:c.338-15610C>T	NP_005036.2:n.338-15610C>T
NM_173054.2:c.338-15610C>T	NP_774959.1:n.338-15610C>T
NM_005045.4:c.338-15610C>T MANE Select	NP_005036.2:n.338-15610C>T
NM_173054.3:c.338-15610C>T	NP_774959.1:n.338-15610C>T