Allele Registry

Canonical Allele Identifier: CA209069

Gene: RELN HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.103557992G>A

GRCh37 chr7:g.103198439G>A

Linked Data - Sequence & Population

gnomAD v4:

chr7-103557992-G-A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000194711

ClinVar Variation:

212041

dbSNP:

797045915

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103557992G>A , CM000669.2:g.103557992G>A	GRCh38
NC_000007.13:g.103198439G>A , CM000669.1:g.103198439G>A	GRCh37
NC_000007.12:g.102985675G>A	NCBI36
NG_011877.1:g.436525C>T
NG_011877.2:g.436525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.5587C>T	ENSP00000388446.3:p.Gln1863Ter
ENST00000428762.6:c.5587C>T MANE Select	ENSP00000392423.1:p.Gln1863Ter
ENST00000679867.1:n.5471C>T
ENST00000681034.1:c.5587C>T	ENSP00000506075.1:p.Gln1863Ter
ENST00000681199.1:n.550C>T
ENST00000343529.9:c.5587C>T	ENSP00000345694.5:p.Gln1863Ter
ENST00000424685.2:c.5587C>T	ENSP00000388446.2:p.Gln1863Ter
ENST00000428762.5:c.5587C>T	ENSP00000392423.1:p.Gln1863Ter
NM_005045.3:c.5587C>T	NP_005036.2:p.Gln1863Ter
NM_173054.2:c.5587C>T	NP_774959.1:p.Gln1863Ter
NM_005045.4:c.5587C>T MANE Select	NP_005036.2:p.Gln1863Ter
NM_173054.3:c.5587C>T	NP_774959.1:p.Gln1863Ter

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