Canonical Allele Identifier: CA457030497

Gene: RELN

Linked Data

• dbSNP Id: rs1481447884
• gnomAD v2: 7-103163864-A-G
• gnomAD v3: 7-103523417-A-G
• gnomAD v4: 7-103523417-A-G
• MyVariant Identifiers: chr7:g.103163864A>G (hg19) ; chr7:g.103523417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103523417A>G , CM000669.2:g.103523417A>G	GRCh38
NC_000007.13:g.103163864A>G , CM000669.1:g.103163864A>G	GRCh37
NC_000007.12:g.102951100A>G	NCBI36
NG_011877.1:g.471100T>C
NG_011877.2:g.471100T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.7464T>C	ENSP00000388446.3:p.His2488=
ENST00000428762.6:c.7464T>C MANE Select	ENSP00000392423.1:p.His2488=
ENST00000478148.2:n.705T>C
ENST00000679867.1:n.7348T>C
ENST00000679952.1:n.1392T>C
ENST00000681034.1:c.7464T>C	ENSP00000506075.1:p.His2488=
ENST00000681364.1:n.713T>C
ENST00000343529.9:c.7464T>C	ENSP00000345694.5:p.His2488=
ENST00000424685.2:c.7464T>C	ENSP00000388446.2:p.His2488=
ENST00000428762.5:c.7464T>C	ENSP00000392423.1:p.His2488=
NM_005045.3:c.7464T>C	NP_005036.2:p.His2488=
NM_173054.2:c.7464T>C	NP_774959.1:p.His2488=
NM_005045.4:c.7464T>C MANE Select	NP_005036.2:p.His2488=
NM_173054.3:c.7464T>C	NP_774959.1:p.His2488=