Canonical Allele Identifier: CA2573141392

Gene: RELN

Linked Data

• ClinVar Variation Id: 1569825
• ClinVar RCV Id: RCV002213380
• dbSNP Id: rs2117140163
• gnomAD v4: 7-103545351-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545351A>G , CM000669.2:g.103545351A>G	GRCh38
NC_000007.13:g.103185798A>G , CM000669.1:g.103185798A>G	GRCh37
NC_000007.12:g.102973034A>G	NCBI36
NG_011877.1:g.449166T>C
NG_011877.2:g.449166T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6303-7T>C	ENSP00000388446.3:n.6303-7T>C
ENST00000428762.6:c.6303-7T>C MANE Select	ENSP00000392423.1:n.6303-7T>C
ENST00000679867.1:n.6187-7T>C
ENST00000679952.1:n.95-7T>C
ENST00000681034.1:c.6303-7T>C	ENSP00000506075.1:n.6303-7T>C
ENST00000681199.1:n.2071-7T>C
ENST00000343529.9:c.6303-7T>C	ENSP00000345694.5:n.6303-7T>C
ENST00000424685.2:c.6303-7T>C	ENSP00000388446.2:n.6303-7T>C
ENST00000428762.5:c.6303-7T>C	ENSP00000392423.1:n.6303-7T>C
NM_005045.3:c.6303-7T>C	NP_005036.2:n.6303-7T>C
NM_173054.2:c.6303-7T>C	NP_774959.1:n.6303-7T>C
NM_005045.4:c.6303-7T>C MANE Select	NP_005036.2:n.6303-7T>C
NM_173054.3:c.6303-7T>C	NP_774959.1:n.6303-7T>C