Canonical Allele Identifier: CA16042562
Gene: RELN HGNC NCBI

Linked Data

ClinVar Variation Id: 372970
ClinVar RCV Id: RCV000414213
dbSNP Id: rs1057518108
MyVariant Identifiers: chr7:g.103155832C>G (hg19) chr7:g.103515385C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.103515385C>G , CM000669.2:g.103515385C>G GRCh38
NC_000007.13:g.103155832C>G , CM000669.1:g.103155832C>G GRCh37
NC_000007.12:g.102943068C>G NCBI36
NG_011877.1:g.479132G>C
NG_011877.2:g.479132G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000424685.3:c.7919G>C ENSP00000388446.3:p.Trp2640Ser
ENST00000428762.6:c.7919G>C MANE Select ENSP00000392423.1:p.Trp2640Ser
ENST00000679867.1:n.7803G>C
ENST00000680248.1:n.1471G>C
ENST00000681034.1:c.7919G>C ENSP00000506075.1:p.Trp2640Ser
ENST00000681364.1:n.1168G>C
ENST00000343529.9:c.7919G>C ENSP00000345694.5:p.Trp2640Ser
ENST00000424685.2:c.7919G>C ENSP00000388446.2:p.Trp2640Ser
ENST00000428762.5:c.7919G>C ENSP00000392423.1:p.Trp2640Ser
NM_005045.3:c.7919G>C NP_005036.2:p.Trp2640Ser
NM_173054.2:c.7919G>C NP_774959.1:p.Trp2640Ser
NM_005045.4:c.7919G>C MANE Select NP_005036.2:p.Trp2640Ser
NM_173054.3:c.7919G>C NP_774959.1:p.Trp2640Ser
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