Canonical Allele Identifier: CA4419917

Gene: RELN SLC26A5-AS1

Linked Data

• ClinVar Variation Id: 358375
• ClinVar RCV Id: RCV000304045 ; RCV000699378 ; RCV002480241
• dbSNP Id: rs116463039
• ExAC: 7:103113320 C / T
• gnomAD v2: 7-103113320-C-T
• gnomAD v3: 7-103472873-C-T
• gnomAD v4: 7-103472873-C-T
• COSMIC: COSM1736707
• MyVariant Identifiers: chr7:g.103113320C>T (hg19) ; chr7:g.103472873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.103472873C>T , CM000669.2:g.103472873C>T	GRCh38
NC_000007.13:g.103113320C>T , CM000669.1:g.103113320C>T	GRCh37
NC_000007.12:g.102900556C>T	NCBI36
NG_011877.1:g.521644G>A
NG_011877.2:g.521644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424685.3:c.*42G>A (RELN)	ENSP00000388446.3:n.*42G>A
ENST00000428762.6:c.10322G>A (RELN) MANE Select	ENSP00000392423.1:p.Arg3441Gln
ENST00000429186.2:c.337G>A (RELN)	ENSP00000404818.2:n.337G>A
ENST00000679371.1:n.2073G>A (RELN)
ENST00000680248.1:n.3868G>A (RELN)
ENST00000681034.1:c.*125G>A (RELN)	ENSP00000506075.1:n.*125G>A
ENST00000681364.1:n.3565G>A (RELN)
ENST00000343529.9:c.10316G>A (RELN)	ENSP00000345694.5:p.Arg3439Gln
ENST00000424685.2:c.10322G>A (RELN)	ENSP00000388446.2:p.Arg3441Gln
ENST00000428762.5:c.10322G>A (RELN)	ENSP00000392423.1:p.Arg3441Gln
ENST00000429186.1:c.248G>A (RELN)
NM_005045.3:c.10322G>A (RELN)	NP_005036.2:p.Arg3441Gln
NM_173054.2:c.10316G>A (RELN)	NP_774959.1:p.Arg3439Gln
NR_110141.1:n.1365+26205C>T (SLC26A5-AS1)
NM_005045.4:c.10322G>A (RELN) MANE Select	NP_005036.2:p.Arg3441Gln
NM_173054.3:c.10316G>A (RELN)	NP_774959.1:p.Arg3439Gln