Canonical Allele Identifier: CA10109557
Gene: RTN4R HGNC NCBI

Linked Data

ClinVar Variation Id: 2251148
ClinVar RCV Id: RCV004111613
dbSNP Id: rs147591609
ExAC: 22:20230067 C / T
gnomAD v2: 22-20230067-C-T
gnomAD v3: 22-20242544-C-T
gnomAD v4: 22-20242544-C-T
MyVariant Identifiers: chr22:g.20230067C>T (hg19) chr22:g.20242544C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20242544C>T , CM000684.2:g.20242544C>T GRCh38
NC_000022.10:g.20230067C>T , CM000684.1:g.20230067C>T GRCh37
NC_000022.9:g.18610067C>T NCBI36
NG_012176.1:g.30750G>A
NG_012176.2:g.30750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000043402.8:c.589G>A MANE Select ENSP00000043402.7:p.Ala197Thr
ENST00000043402.7:c.589G>A ENSP00000043402.7:p.Ala197Thr
ENST00000416372.5:c.648G>A
ENST00000425986.1:c.846G>A
NM_023004.5:c.589G>A NP_075380.1:p.Ala197Thr
NM_023004.6:c.589G>A MANE Select NP_075380.1:p.Ala197Thr
Search 100 bp 5'
Search 100 bp 3'