Canonical Allele Identifier: CA208897

Gene: RELN

Linked Data

• ClinVar Variation Id: 95221
• ClinVar RCV Id: RCV000194617 ; RCV000370651 ; RCV000723687 ; RCV001086262
• dbSNP Id: rs55693709
• ExAC: 7:103417081 A / G
• gnomAD v2: 7-103417081-A-G
• gnomAD v3: 7-103776634-A-G
• gnomAD v4: 7-103776634-A-G
• MyVariant Identifiers: chr7:g.103417081A>G (hg19) ; chr7:g.103776634A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103776634A>G , CM000669.2:g.103776634A>G	GRCh38
NC_000007.13:g.103417081A>G , CM000669.1:g.103417081A>G	GRCh37
NC_000007.12:g.103204317A>G	NCBI36
NG_011877.1:g.217883T>C
NG_011877.2:g.217883T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000424685.3:c.474-7T>C	ENSP00000388446.3:n.474-7T>C
ENST00000428762.6:c.474-7T>C MANE Select	ENSP00000392423.1:n.474-7T>C
ENST00000473457.2:n.738-7T>C
ENST00000679867.1:n.358-7T>C
ENST00000680712.1:n.288-7T>C
ENST00000681034.1:c.474-7T>C	ENSP00000506075.1:n.474-7T>C
ENST00000681401.1:n.750-7T>C
ENST00000681931.1:n.358-7T>C
ENST00000343529.9:c.474-7T>C	ENSP00000345694.5:n.474-7T>C
ENST00000424685.2:c.474-7T>C	ENSP00000388446.2:n.474-7T>C
ENST00000428762.5:c.474-7T>C	ENSP00000392423.1:n.474-7T>C
NM_005045.3:c.474-7T>C	NP_005036.2:n.474-7T>C
NM_173054.2:c.474-7T>C	NP_774959.1:n.474-7T>C
NM_005045.4:c.474-7T>C MANE Select	NP_005036.2:n.474-7T>C
NM_173054.3:c.474-7T>C	NP_774959.1:n.474-7T>C