Canonical Allele Identifier: CA244697

Gene: RELN

Linked Data

• ClinVar Variation Id: 196901
• ClinVar RCV Id: RCV000177786 ; RCV000712913 ; RCV001088748 ; RCV001291197 ; RCV002517721
• dbSNP Id: rs362800
• ExAC: 7:103205735 G / C
• gnomAD v2: 7-103205735-G-C
• gnomAD v3: 7-103565288-G-C
• gnomAD v4: 7-103565288-G-C
• MyVariant Identifiers: chr7:g.103205735G>C (hg19) ; chr7:g.103565288G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103565288G>C , CM000669.2:g.103565288G>C	GRCh38
NC_000007.13:g.103205735G>C , CM000669.1:g.103205735G>C	GRCh37
NC_000007.12:g.102992971G>C	NCBI36
NG_011877.1:g.429229C>G
NG_011877.2:g.429229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.5200C>G	ENSP00000388446.3:p.Leu1734Val
ENST00000428762.6:c.5200C>G MANE Select	ENSP00000392423.1:p.Leu1734Val
ENST00000679867.1:n.5084C>G
ENST00000680706.1:n.2903C>G
ENST00000681034.1:c.5200C>G	ENSP00000506075.1:p.Leu1734Val
ENST00000343529.9:c.5200C>G	ENSP00000345694.5:p.Leu1734Val
ENST00000424685.2:c.5200C>G	ENSP00000388446.2:p.Leu1734Val
ENST00000428762.5:c.5200C>G	ENSP00000392423.1:p.Leu1734Val
NM_005045.3:c.5200C>G	NP_005036.2:p.Leu1734Val
NM_173054.2:c.5200C>G	NP_774959.1:p.Leu1734Val
NM_005045.4:c.5200C>G MANE Select	NP_005036.2:p.Leu1734Val
NM_173054.3:c.5200C>G	NP_774959.1:p.Leu1734Val