Canonical Allele Identifier: CA2573141383

Gene: RELN

Linked Data

• ClinVar Variation Id: 1584237
• ClinVar RCV Id: RCV002112183
• dbSNP Id: rs2117201107
• gnomAD v4: 7-103572278-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103572278T>C , CM000669.2:g.103572278T>C	GRCh38
NC_000007.13:g.103212725T>C , CM000669.1:g.103212725T>C	GRCh37
NC_000007.12:g.102999961T>C	NCBI36
NG_011877.1:g.422239A>G
NG_011877.2:g.422239A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000424685.3:c.4512-18A>G	ENSP00000388446.3:n.4512-18A>G
ENST00000428762.6:c.4512-18A>G MANE Select	ENSP00000392423.1:n.4512-18A>G
ENST00000679867.1:n.4396-18A>G
ENST00000680706.1:n.2215-18A>G
ENST00000681034.1:c.4512-18A>G	ENSP00000506075.1:n.4512-18A>G
ENST00000343529.9:c.4512-18A>G	ENSP00000345694.5:n.4512-18A>G
ENST00000424685.2:c.4512-18A>G	ENSP00000388446.2:n.4512-18A>G
ENST00000428762.5:c.4512-18A>G	ENSP00000392423.1:n.4512-18A>G
NM_005045.3:c.4512-18A>G	NP_005036.2:n.4512-18A>G
NM_173054.2:c.4512-18A>G	NP_774959.1:n.4512-18A>G
NM_005045.4:c.4512-18A>G MANE Select	NP_005036.2:n.4512-18A>G
NM_173054.3:c.4512-18A>G	NP_774959.1:n.4512-18A>G