Canonical Allele Identifier: CA4420968

Gene: RELN

Linked Data

• ClinVar Variation Id: 2926467
• ClinVar RCV Id: RCV003788705
• dbSNP Id: rs759243948
• ExAC: 7:103185738 A / G
• gnomAD v2: 7-103185738-A-G
• gnomAD v4: 7-103545291-A-G
• MyVariant Identifiers: chr7:g.103185738A>G (hg19) ; chr7:g.103545291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545291A>G , CM000669.2:g.103545291A>G	GRCh38
NC_000007.13:g.103185738A>G , CM000669.1:g.103185738A>G	GRCh37
NC_000007.12:g.102972974A>G	NCBI36
NG_011877.1:g.449226T>C
NG_011877.2:g.449226T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6356T>C	ENSP00000388446.3:p.Val2119Ala
ENST00000428762.6:c.6356T>C MANE Select	ENSP00000392423.1:p.Val2119Ala
ENST00000679867.1:n.6240T>C
ENST00000679952.1:n.148T>C
ENST00000681034.1:c.6356T>C	ENSP00000506075.1:p.Val2119Ala
ENST00000681199.1:n.2124T>C
ENST00000343529.9:c.6356T>C	ENSP00000345694.5:p.Val2119Ala
ENST00000424685.2:c.6356T>C	ENSP00000388446.2:p.Val2119Ala
ENST00000428762.5:c.6356T>C	ENSP00000392423.1:p.Val2119Ala
NM_005045.3:c.6356T>C	NP_005036.2:p.Val2119Ala
NM_173054.2:c.6356T>C	NP_774959.1:p.Val2119Ala
NM_005045.4:c.6356T>C MANE Select	NP_005036.2:p.Val2119Ala
NM_173054.3:c.6356T>C	NP_774959.1:p.Val2119Ala