Canonical Allele Identifier: CA576939742

Gene: RELN

Linked Data

• ClinVar Variation Id: 1186517
• ClinVar RCV Id: RCV001545630
• dbSNP Id: rs1490557126
• gnomAD v2: 7-103186088-T-A
• gnomAD v3: 7-103545641-T-A
• gnomAD v4: 7-103545641-T-A
• MyVariant Identifiers: chr7:g.103186088T>A (hg19) ; chr7:g.103545641T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103545641T>A , CM000669.2:g.103545641T>A	GRCh38
NC_000007.13:g.103186088T>A , CM000669.1:g.103186088T>A	GRCh37
NC_000007.12:g.102973324T>A	NCBI36
NG_011877.1:g.448876A>T
NG_011877.2:g.448876A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.6303-297A>T	ENSP00000388446.3:n.6303-297A>T
ENST00000428762.6:c.6303-297A>T MANE Select	ENSP00000392423.1:n.6303-297A>T
ENST00000679867.1:n.6187-297A>T
ENST00000679952.1:n.95-297A>T
ENST00000681034.1:c.6303-297A>T	ENSP00000506075.1:n.6303-297A>T
ENST00000681199.1:n.2071-297A>T
ENST00000343529.9:c.6303-297A>T	ENSP00000345694.5:n.6303-297A>T
ENST00000424685.2:c.6303-297A>T	ENSP00000388446.2:n.6303-297A>T
ENST00000428762.5:c.6303-297A>T	ENSP00000392423.1:n.6303-297A>T
NM_005045.3:c.6303-297A>T	NP_005036.2:n.6303-297A>T
NM_173054.2:c.6303-297A>T	NP_774959.1:n.6303-297A>T
NM_005045.4:c.6303-297A>T MANE Select	NP_005036.2:n.6303-297A>T
NM_173054.3:c.6303-297A>T	NP_774959.1:n.6303-297A>T