Canonical Allele Identifier: CA163852426

Gene: RELN

Linked Data

• dbSNP Id: rs933922539
• gnomAD v3: 7-103678368-A-C
• gnomAD v4: 7-103678368-A-C
• MyVariant Identifiers: chr7:g.103318815A>C (hg19) ; chr7:g.103678368A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103678368A>C , CM000669.2:g.103678368A>C	GRCh38
NC_000007.13:g.103318815A>C , CM000669.1:g.103318815A>C	GRCh37
NC_000007.12:g.103106051A>C	NCBI36
NG_011877.1:g.316149T>G
NG_011877.2:g.316149T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.1289+3748T>G	ENSP00000388446.3:n.1289+3748T>G
ENST00000428762.6:c.1289+3748T>G MANE Select	ENSP00000392423.1:n.1289+3748T>G
ENST00000473457.2:n.1553+3748T>G
ENST00000679867.1:n.1173+3748T>G
ENST00000680712.1:n.1006+3748T>G
ENST00000681034.1:c.1289+3748T>G	ENSP00000506075.1:n.1289+3748T>G
ENST00000681931.1:n.1173+3748T>G
ENST00000343529.9:c.1289+3748T>G	ENSP00000345694.5:n.1289+3748T>G
ENST00000424685.2:c.1289+3748T>G	ENSP00000388446.2:n.1289+3748T>G
ENST00000428762.5:c.1289+3748T>G	ENSP00000392423.1:n.1289+3748T>G
NM_005045.3:c.1289+3748T>G	NP_005036.2:n.1289+3748T>G
NM_173054.2:c.1289+3748T>G	NP_774959.1:n.1289+3748T>G
NM_005045.4:c.1289+3748T>G MANE Select	NP_005036.2:n.1289+3748T>G
NM_173054.3:c.1289+3748T>G	NP_774959.1:n.1289+3748T>G